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Journal articles on the topic 'Genetic polymorphism'
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1
Anderson, J. A., G. A. Churchill, J. E. Autrique, S. D. Tanksley, and M. E. Sorrells. "Optimizing parental selection for genetic linkage maps." Genome 36, no. 1 (February 1, 1993): 181–86. http://dx.doi.org/10.1139/g93-024.
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Genetic linkage maps based on restriction fragment length polymorphisms are useful for many purposes; however, different populations are required to fulfill different objectives. Clones from the linkage map(s) are subsequently probed onto populations developed for special purposes such as gene tagging. Therefore, clones contained on the initial map(s) must be polymorphic on a wide range of genotypes to have maximum utility. The objectives of this research were to (i) calculate polymorphism information content values of 51 low-copy DNA clones and (ii) use the resulting values to choose potential mapping parents. Polymorphism information content was calculated using gene diversity by classifying restriction fragment patterns on a diverse set of 18 wheat genotypes. Combinations of potential parents were then compared by examining both the proportion of polymorphic clones and the likelihood that those mapped clones would give a polymorphism when used on other populations. Genotype pairs were identified that would map more highly informative DNA clones compared with a population derived from the most polymorphic potential parents. The methodologies used to characterize clones and rank potential parents should be applicable to other species and types of markers as well.Key words: restriction fragment length polymorphism, mapping, Triticum aestivum.
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Kocabaş, Neslihan Aygün, and Bensu Karahalil. "XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population." International Journal of Toxicology 25, no. 5 (September 2006): 419–22. http://dx.doi.org/10.1080/10915810600870567.
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Humans are routinely exposed to mutagenic and carcinogenic chemicals. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. The integrity of most of the so-damaged DNAs is typically restored as a consequence of the action of certain DNA-repairing enzymes. In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. XRCC1 is a base-excision repair protein that plays a central role in the repair of DNA base damage and strand breaks. Amongst the known genetic polymorphisms of the DNA-repair genes, X-ray repair cross-complementing groups 1 and 3 ( XRCC1 and XRCC3) have been studied most commonly. Inconsistent results have been reported regarding the associations between the Arg399Gln (exon 10) polymorphism of XRCC1 and either functional significance or the risk of tobacco-associated cancers. The Gln allele of this polymorphism was associated with higher levels of DNA adducts. Therefore we genotyped one of the polymorphism of XRCC1, Gln allele. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. There has been no information on interindividual variability of Arg399Gln genotype in the Turkish population. Due to the association between the Arg399Gln polymorphism of XRCC1 and the risk of tobacco-associated cancers, we preferred to evaluate the allelic frequencies of Arg399Gln genotype than the other polymorphisms in XRCC1 gene in healthy Turkish population by polymerase chain reaction–restriction fragment polymorphism (PCR-RFLP) analysis to enable to show interindividual differences and compare to other populations.
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Kowalczyk, Marek, Agnieszka Kaliniak-Dziura, Michał Prasow, Piotr Domaradzki, and Anna Litwińczuk. "Meat quality – Genetic background and methods of its analysis." Czech Journal of Food Sciences 40, No. 1 (February 24, 2022): 15–25. http://dx.doi.org/10.17221/255/2020-cjfs.
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Growing consumer awareness is forcing food producers to supply raw material and products of increasingly high quality and health-promoting properties. Knowledge of the genetic background of quality characteristics is taking on great importance, enabling selection based on molecular markers. The increasing throughput of molecular techniques, in combination with an expanding bioinformatics infrastructure, is leading to continual improvement in understanding of the molecular mechanisms influencing meat quality. This has resulted in the identification of polymorphic nucleotides [single nucleotide polymorphisms (SNPs)] showing a relationship with meat characteristics such as tenderness [polymorphism in the calpain (CAPN) and calpastatin (CAST) genes], marbling [diacylglycerol o-acyltransferase 1 (DGAT1)], colour, pH and water-holding capacity (WHC) [CAST, stearoyl-CoA desaturase (SCD) and others], and fatty acid profile (SCD1). An increasingly wide range of methods is used for analysis, from techniques based on amplification of nucleic acids [polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system-PCR (ARMS-PCR)] through Sanger sequencing to high-throughput next-generation sequencing (NGS) techniques. This paper is a review of the literature on polymorphism of genes determining the quality characteristics of meat and molecular methods used to detect them.
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Taran Kyzy, Jafar Aliyev. "Value heterochromatin and polymorphic varian gene folat cycle in women with miscarried and losses of pregnancy." HEALTH OF WOMAN, no. 9(115) (November 30, 2016): 148–51. http://dx.doi.org/10.15574/hw.2016.115.148.
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The article presents data from surveys of women of losses of pregnancy (LP) in history, conducted within the medical genetic counseling, given the urgency of specifying genetic factors that actually are in causal connection with the LP specification clinical effects of epigenetic variability. The objective: to clarify the meaning of the changes in women heterochromatin (chromosomal polymorphism) and polymorphic variants of genes folat cycle enzymes as potential risk factors and pathogenic primordial LP. Patients and methods. The study involved two groups of women: I - 154 observations with complicated obstetric history in LP and II - 32 healthy women with uncomplicated reproductive history, held preconception planning to prevent pregnancy. Studied genealogical history, especially of internal organs, genitalia. Special studies included cytogenetic analysis, identification of gene polymorphisms system folat cycle methylentetrahydrofolate reductase [MTHFR] (C677T, A1298C, G1793A); methionine synthase reductase [MTRR] (A66G). Results. Women with a history of LP in 36.4% identified chromosome polymorphisms (SNPs extreme variants of chromosome polymorphism) on the background of various risk alleles of polymorphic variants of genes folat cycle; 7.1% of them is a polymorphism of the 21st chromosome. These genetic features are interpreted as a significant risk factor for LP as grounds for targeted in-depth medical and genetic examination. Prevalence among women with a history of PL undifferentiated forms cjnnective tissue and mesoderm dysplasia, benign tumors and «precancerous» states, as well as the prevalence of cardiovascular and psycho-neurological disease in pedigree suggests pathogenetic link these phenomena, the role of chromosomal polymorphism and polymorphic variants of genes of pathogenic folat cycle as primordial. Conclusion. The data on the place and role of heterochromatin and gene polymorphisms folat cycle in the origin LP should be mandatory option when examining women within the medical genetic counseling. Key words: pregnancy, reproductive losses, chromosomal instability, folat cycle genes, ancestry.
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Ray Basu, Barnali, Randrita Pal, Ankita Samaddar, and Sanchari Chackraborty. "Genetic polymorphism: evolution with technological advances and future direction." INDIAN JOURNAL OF PHYSIOLOGY AND ALLIED SCIENCES 74, no. 04 (December 17, 2022): 12–15. http://dx.doi.org/10.55184/ijpas.v74i04.35.
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Background: Genetic polymorphisms emerge as one of the major contributing factors behind the variability in disease development and pathogenesis as well as drug response in individuals. Fortunately, in the last few decades, a range of technological advancements eased the way for polymorphic studies to reveal the association between genetic polymorphisms like single nucleotide polymorphisms (SNPs) or Variable number tandem repeats (VNTRs) and human diseases. Starting from Mendelian inheritance to recent Next Generation Sequencing (NGS) technologies not only helped to understand human disease biology better, but also paved the way towards personalised therapy by studying individual drug/therapy responses based on genetic makeup (mutation/variant) of individuals. Method: Literature mining from PubMed, Google Scholar, and Medline databases using keywords like ‘polymorphism’, ‘genetic polymorphism’, ‘SNP’, ‘VNTR’, ‘CNV’. Result: The massively parallel sequencing capability of the NGS facilitates clinicians towards therapeutic decisions and aids follow-up of patients by identifying minimal residual disease. However, this is just the beginning of the era of targeted and personalised therapy and the scientific world, only able to touch the tip of the iceberg, much focus is needed to develop more user-friendly and cost-effective technologies to reach more patients along with the development of much simpler and robust statistical methodologies to handle or interpret big data.
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PENA, RAMONA N., ARMAND SÁNCHEZ, and JOSEP M. FOLCH. "Characterization of genetic polymorphism in the goat β-lactoglobulin gene." Journal of Dairy Research 67, no. 2 (May 2000): 217–24. http://dx.doi.org/10.1017/s0022029900004155.
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Two new variants have been detected and characterized for the goat β-lactoglobulin gene at the cDNA level and confirmed at the genomic level. The two polymorphisms are located on exon 7 of the gene. One of the polymorphic sites is produced by a single nucleotide substitution in position +4601, allowing a polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) genotyping procedure to be developed using SacII restriction enzyme. The other polymorphic position contains a 10 bp long insertion at position +4641 that can be detected by capillary electrophoresis of the PCR product amplified with a fluorescent primer. The association of these two polymorphisms was also investigated, resulting in the description of two new alleles. Both of these contained the point mutation at the SacII site, with or without the 10 bp insertion at position +4641. The distribution of these new polymorphisms was studied in a population of males of four different goat breeds. The gene frequencies for these variants were similar in Spanish and French breeds.
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Sorokina, E. Yu, A. V. Pogozheva, and D. B. Nikityuk. "Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists." Sports medicine: research and practice 11, no. 2 (September 22, 2021): 25–33. http://dx.doi.org/10.47529/2223-2524.2021.2.5.
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Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nutritional status markers were determined using the ABX Pentra 400 analyzer (HORIBA ABX SAS, France) in an automatic mode. Genotyping was performed using allelespecific amplification using TaqMan probes complementary to polymorphic DNA regions and realtime detection of the results using reagent kits from Syntol, Russia. Studies were performed on the device CFX96 Real Time System (BioRad, USA). Statistical processing of the results was performed using the PASW Statistics 20 system.Results: as a result of generic Diovan athletes martial artists on the risk of noncommunicable diseases, discovered that the frequency of allele A of rs9939609 polymorphism of the FTO gene they have is 43.9 %, allele polymorphism rs4994 ADRB3 gene — 10.9 %, G allele of rs1042713 ADRB2 gene polymorphism — 52.6 %, G allele of the polymorphism rs2228570 VDR gene with 44.9 % and allele t of rs1801133 in the MTHFR gene to 36.7 %. An association was found between the value of anthropometric indicators in male martial artists and the presence of polymorphisms rs9939609 (FTO), rs1042713 (ADRB2) and rs2228570 (VDR).Conclusions: the reason for the identified dyslipidemia in martial artists may be not only the previously detected violations of the structure of their nutrition, but also the presence of certain genetic polymorphisms, in particular, rs4994 of the ADRB3 gene and rs1042713 of the ADRB2 gene.
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Guzmán-Ornelas, Milton-Omar, Marcelo Heron Petri, Mónica Vázquez-Del Mercado, Efraín Chavarría-Ávila, Fernanda-Isadora Corona-Meraz, Sandra-Luz Ruíz-Quezada, Perla-Monserrat Madrigal-Ruíz, Jorge Castro-Albarrán, Flavio Sandoval-García, and Rosa-Elena Navarro-Hernández. "CCL2 Serum Levels and Adiposity Are Associated with the Polymorphic Phenotypes -2518A on CCL2 and 64ILE on CCR2 in a Mexican Population with Insulin Resistance." Journal of Diabetes Research 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/5675739.
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Genetic susceptibility has been described in insulin resistance (IR). Chemokine (C-C motif) ligand-2 (CCL2) is overexpressed in white adipose tissue and is the ligand of C-C motif receptor-2 (CCR2). TheCCL2G-2518A polymorphism is known to regulate gene expression, whereas the physiological effects of theCCR2Val64Ile polymorphism are unknown. The aim of the study is to investigate the relationship between these polymorphisms with soluble CCL2 levels (sCCL2), metabolic markers, and adiposity. In a cross-sectional study we included 380 Mexican-Mestizo individuals, classified with IR according to Stern criteria. Polymorphism was identified using PCR-RFLP/sequence-specific primers. Anthropometrics and metabolic markers were measured by routine methods and adipokines and sCCL2 by ELISA. The CCL2 polymorphism was associated with IR (polymorphicA+phenotype frequencies were 70.9%, 82.6%, in individuals with and without IR, resp.). Phenotype carriers CCL2 (A+) displayed lower body mass and fat indexes, insulin and HOMA-IR, and higher adiponectin levels. Individuals with IR presented higher sCCL2 compared to individuals without IR and was associated with CCR2 (Ile+) phenotype. The double-polymorphic phenotype carriers (A+/Ile+) exhibited higher sCCL2 than double-wild-type phenotype carriers (A−/Ile−). The present findings suggest that sCCL2 production possibly will be associated with the adiposity and polymorphic phenotypes ofCCL2andCCR2, in Mexican-Mestizos with IR.
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Calhoun, Eric S., Renee M. McGovern, Carol A. Janney, James R. Cerhan, Stephen J. Iturria, David I. Smith, Bobbie S. Gostout, and David H. Persing. "Host Genetic Polymorphism Analysis in Cervical Cancer." Clinical Chemistry 48, no. 8 (August 1, 2002): 1218–24. http://dx.doi.org/10.1093/clinchem/48.8.1218.
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Abstract Background: The natural history of cervical cancer comprises a latency period that probably involves long-term immunologic tolerance of human papillomavirus infection. Identifying host determinants of viral persistence may help to better understand the mechanisms of tolerance and may lead to the development of tests that can allow more focused follow-up of high-risk individuals. Methods: Genotypic frequencies of 12 polymorphic loci in four candidate genes from 127 cervical cancer patients were compared with a control group of 108 female blood donors. Genotypes were determined by PCR amplification and direct sequencing of isolated genomic DNA. Results: The tumor necrosis factor-α (TNFα) −238 polymorphism was significantly underrepresented in cervical cancer patients [heterozygotes (HETs), odds ratio (OR) = 0.33; 95% confidence interval (CI), 0.11–0.96], as was the TNFα −376 polymorphism (P = 0.02; 0% for any variant genotype in cases vs 4.7% in controls). The NRAMP1 3′ untranslated region STP+86 polymorphism also appeared to be inversely associated with cervical cancer, but this result did not reach statistical significance (HET, OR = 0.57; 95% CI, 0.32–1.02). The p53 codon 72 arginine allele showed a suggestive negative association with cervical cancer (HET, OR = 0.49; 95% CI, 0.14–1.63; homozygotes, OR = 0.35; 95% CI, 0.11–1.17). The remaining alleles tested showed no association with cervical cancer. Conclusions: We identified host genetic polymorphisms that may be associated with cervical cancer risk, some of which have been linked to potential functional effects on cellular immune responses or antigen processing. We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. Although our findings support the general hypothesis that host immunogenetic determinants other than class II MHC may be important in the development of cervical cancer, further analysis of the HLA gene cluster comprising the implicated TNFα single-nucleotide polymorphisms will be required to determine whether their association is linkage independent.
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Kula, Agnieszka, Miriam Dawidowicz, Paweł Świętochowski, and Zofia Ostrowska. "Estimation of the influence of genetic polymorphisms of opioid, purinergic and adrenergic receptors on opioid therapies." Postępy Higieny i Medycyny Doświadczalnej 73 (May 8, 2019): 189–96. http://dx.doi.org/10.5604/01.3001.0013.1935.
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The main aim of this work was to collect and present the polymorphisms that have been identified and tested and that may potentially have an influence on the effect of analgesic therapies. Opioid drugs are one of the most commonly used painkillers in the treatment of postoperative, neoplastic and post-traumatic pain. Opioid receptors and their types: μ, δ, κ, purinergic and adrenergic receptors contribute to nociceptive stimulation and their modulation. The analgesic effect induced by opioids is dependent on many factors, such as age, sex, body mass and the occurrence of different polymorphic variants of genes encoding opioid, purinergic and adrenergic receptors. Many polymorphisms have been identified within the following genes: OPRM, OPRK, OPRD, ADRB1 and P2RX7, encoding the following receptors: μ, κ, δ, purinergic P2X and β1-adrenergic. The most common polymorphism is the single nucleotide polymorphism (SNP-single nucleotide polymorphism). The occurrence of some polymorphic forms may generate differences in expression and have an impact on the physicochemical properties of receptors, which results in different levels of analgesia in the population and the generation of side effects. The relation between the occurrence of polymorphic variants of the genes of receptors participating in nociceptive stimulation and the increased or reduced demand for opioids necessary to achieve analgesia has been confirmed. Mechanisms in which polymorphisms affect the modification of the anesthetic response to opioids in most cases remain unknown. Further research on opioid, purinergic and adrenergic receptors polymorphisms may improve the effectiveness of opioid therapies by regulating the dose to the patient’s individual pain phenotype, and may reduce the risk of side effects resulting from using too high doses of the drug.
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Katagiri, Seiichiro, Tetsuzo Tauchi, Tomohiro Umezu, Kazuhiro Ohtsuki, Kenichi Tadokoro, Yoshinori Yamamoto, Junko H. Ohyashiki, and Kazuma Ohyashiki. "High Frequencies Of Switching To 2nd TKIs and Failure To Maintain Standard Imatinib Dose In Japanese CML Patients With BIM Genetic Variants." Blood 122, no. 21 (November 15, 2013): 4021. http://dx.doi.org/10.1182/blood.v122.21.4021.4021.
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Abstract Recently, it has been demonstrated that the proapoptotic protein BIM showed a deletion polymorphism at exon 3 in eastern Asian population, and some CML patients with the BIM deletion polymorphism are resistant to imatinib treatment (Ng et al. Nature Medicine, 2012). More recently, a BIM single nucleotide polymorphism (SNP) at exon 8 (c465C>T) has also been found in French CML patients and this SNP is associated with not only imatinib resistance but also the presence of BCR-ABL mutations (Mahon et al. ASH abstract, 2012). We aimed to investigate a possible association between such genetic variations of BIM and clinical manifestation in Japanese CML patients who experienced undetectable minimal residual disease (UMRD: so-called CMR4.5). In this study, we newly analyzed BIM SNP (c465C>T) in 47 CML-UMRD patients with known BIM deletion polymorphism status (Katagiri et al. Br J Haematol, 2013). Twenty normal subjects were used as controls. The frequency of either BIM SNP at exon 8 or BIM deletion polymorphism did not deviate from the normal subjects in the Japanese population (P = 0.7597 and P = 0.2880, respectively). None of the subjects showed both BIM SNP at exon 8 and BIM deletion polymorphism concomitantly. We then compared the clinical features among 3 CML-UMRD groups: patients with BIM SNP, patients with BIM deletion polymorphism, and patients who showed neither BIM SNP nor BIM deletion polymorphism (no genetic variations). The frequency of CML patients who maintained 400 mg imatinib dose until stopping was significantly higher in those without genetic variations than in those with BIM SNP or BIM deletion polymorphism (P = 0.0002). Moreover, the frequency of CML patients who switched to second tyrosine kinase inhibitors (2nd TKIs) was significantly higher in those with BIM SNP or BIM deletion polymorphism than in those without such polymorphisms (P = 0.0055).Number of CML patientsMaintained IM 400 mgChange of imatinib dose2nd TKIs switchingBIM SNP (c465C>T)11/474/115/112/11BIM deletion polymorphism6/471/63/62/6BIM SNP or deletion polymorphism17/475/178/174/17No BIM genetic variationss30/4725/305/300/30 This is apparently the first study to circumstantiate the BIM genetic variants in Japanese CML patients with UMPD. Although the number of patients is small, our results suggest that CML patients without BIM deletion polymorphism/SNP could be maintained under standard imatinib dose without switching to 2nd TKIs, and thereby, have a possibility to stop TKIs therapy. Disclosures: Ohyashiki: Norvartis KK: Research Funding, Speakers Bureau; Bristol Meyer Squibe KK: Research Funding, Speakers Bureau.
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Dietrich, W., H. Katz, S. E. Lincoln, H. S. Shin, J. Friedman, N. C. Dracopoli, and E. S. Lander. "A genetic map of the mouse suitable for typing intraspecific crosses." Genetics 131, no. 2 (June 1, 1992): 423–47. http://dx.doi.org/10.1093/genetics/131.2.423.
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Abstract We report the construction of a genetic linkage map of the mouse, consisting entirely of genetic markers that can be rapidly typed by polymerase chain reaction and that show a high degree of polymorphism among inbred laboratory strains. Specifically, the map contains 317 simple sequence length polymorphisms at an average spacing of 4.3 cM and is detectably linked to approximately 99% of the mouse genome. In typical crosses between inbred laboratory strains, about 50% of the markers are polymorphic, making it straightforward to follow inheritance in almost any cross.
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Woeste, Keith, Gale H. McGranahan, and Robert Bernatzky. "Randomly Amplified Polymorphic DNA Loci from a Walnut Backcross [(Juglans hindsii × J. regia) × J. regia]." Journal of the American Society for Horticultural Science 121, no. 3 (May 1996): 358–61. http://dx.doi.org/10.21273/jashs.121.3.358.
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Twenty-five random decamer primers were used to evaluate the level of polymorphism between Persian walnut and the Northern California black walnut. Sixty-six randomly amplified polymorphic DNA (RAPD) markers were identified using an interspecific walnut backcross population [(Juglans hindsii × J. regia) × J. regia]. Segregation data from these polymorphisms were joined to a previously published set of restriction fragment-length polymorphism (RFLP) marker data to expand the genetic map of walnut to 107 markers in 15 linkage groups.
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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger, et al. "Association of common genetic variations and idiopathic venous thromboembolism." Thrombosis and Haemostasis 103, no. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.
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SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.
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Kumar, Sanjay. "Studies on efficiency of RAPD primers in developing molecular profiles for genetic purity studies in soybean (Glycine max L.) cultivars." Genetika 46, no. 3 (2014): 681–92. http://dx.doi.org/10.2298/gensr1403681k.
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Major advances have recently been made in our understanding of soybean genetics and of the application of new technologies to soybean improvement. Estimates of genetic relationships on the basis of the enzymes and molecular markers have been shown to be consistent with expectations based on origin and pedigree information. To identify efficient markers, that are to be used for genetic purity studies, polymorphism is the basic criterion. RAPD has been found to be an effective and efficient tool to evaluate and reveal genetic polymorphism in several crop species. In present study a total of 80 RAPD primers were screened, out of which 37 gave amplification and only 30 primers showed unambiguous DNA profile. Out of these 30 primers, 22 gave polymorphic banding patterns. It is evident from the result that, 30/80 primers tried (38%) provided unambiguous amplification and out of 30 primers, 22 primers (73%) were found to be polymorphic. Scorable 30 RAPD primers led to amplification of 120 fragments out of which 81 (67.5%) bands were found to be polymorphic. On an average, we got 4 bands per primer and 15 primers (50%) have been found to produce more number of bands than the average value which is encouraging. 8 primers were found to give 100% polymorphisms. Our results are indicative of the efficiency of RAPD primers towards development of molecular profiles.
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Tsai, Ming-Kai, Hui-Min David Wang, Jeng-Chuan Shiang, I.-Hung Chen, Chih-Chiang Wang, Ya-Fen Shiao, Wen-Sheng Liu, Tai-Jung Lin, Tsung-Ming Chen, and Ya-Huey Chen. "Sequence Variants ofADIPOQand Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population." Scientific World Journal 2014 (2014): 1–7. http://dx.doi.org/10.1155/2014/650393.
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Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM), including adiponectin (ADIPOQ) gene and transcription factor 7-like 2 (TCF7L2), but few studies clarified the effect of genetic polymorphisms ofADIPOQandTCF7L2on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs) inADIPOQandTCF7L2genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to showADIPOQrs1501299 polymorphism variations strongly correlated with T2DM risk(P=0.042), with rs2241766 polymorphism being not associated with T2DM(P=0.967). However, both polymorphisms rs7903146 and rs12255372 ofTCF7L2were rarely detected in Taiwanese people. This study avers thatADIPOQrs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.
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SHIN, HYOUNG DOO, IL KIM, CHAN-BUM CHOI, SOO OK LEE, HYE WON LEE, and SANG-CHEOL BAE. "Different Genetic Effects of Interferon Regulatory Factor 5 (IRF5) Polymorphisms on Systemic Lupus Erythematosus in a Korean Population." Journal of Rheumatology 35, no. 11 (November 2008): 2148–51. http://dx.doi.org/10.3899/jrheum.080124.
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ObjectiveIn an effort to replicate additional associations of interferon regulatory factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE) in an Asian population, we examined those genetic effects in a Korean SLE cohort.MethodsEach IRF5 polymorphism was genotyped in 1565 subjects using the TaqMan method and examined to determine whether it could explain the association with SLE.ResultsThree single-nucleotide polymorphisms (IRF5-15-1, rs2070197, and rs10488631), which showed strong and/or independent association in Caucasian populations, were not polymorphic in our Korean population. Association analysis revealed different genetic effects in Koreans compared with Caucasian populations. In addition, conditional analysis suggested independent genetic effects of 3 variant groups in the Korean population.ConclusionWe demonstrate different genetic effects of IRF5 polymorphisms on the risk of SLE according to ethnicity.
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Traspov, AA, MM Minashkin, SV Poyarkov, AG Komarov, IA Shtinova, GI Speshilov, IA Karbyshev, NV Pozdniakova, and MA Godkov. "The rs17713054 and rs1800629 polymorphisms of genes LZTFL1 and TNF are associated with COVID-19 severity." Bulletin of Russian State Medical University, no. 2022(6) (December 2022): 92–97. http://dx.doi.org/10.24075/brsmu.2022.065.
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Both genetic and non-genetic factors are responsible for high interindividual variability in response to SARS-CoV-2. Despite the fact that multiple genetic polymorphisms have been identified as risk factors of severe COVID-19, such polymorphisms are still insufficiently studied in the Russian population. The study was aimed to identify genetic determinants associated with severe COVID-19 in the sample of patients from the Russian Federation. The correlation of the rs17713054 polymorphism in gene LZTFL1 and rs1800629 polymorphism in gene TNF (tumor necrosis factor) with the COVID-19 severity was assessed. DNA samples obtained from 713 patients (324 males and 389 females) aged 18‒95 with COVID-19 of varying severity were analyzed. The rs1800629 polymorphism of gene TNF (OR = 1.5; p = 0.02) and rs17713054 polymorphism of gene LZTFL1 (OR = 1.60; p = 0.0043) were identified as risk factors of severe disease. The TNF polymorphism rs1800629 and LZTFL1 polymorphism rs17713054 could be considered as potential predictive biomarkers. The rs17713054 G > A polymorphism was strongly associated with severe disease. In the future the findings may provide the basis for the development of test-systems for prediction of the risk of severe viral respiratory diseases.
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Staub, Jack E., Zhanyong Sun, Sang-Min Chung, and Richard L. Lower. "Evidence for Colinearity among Genetic Linkage Maps in Cucumber." HortScience 42, no. 1 (February 2007): 20–27. http://dx.doi.org/10.21273/hortsci.42.1.20.
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Cucumber (Cucumis sativus L. var. sativus; 2n = 2x = 14), has a narrow genetic base (3% to 8% polymorphism). Nevertheless, several genetic maps exist for this species. It is important to know the degree of colinearity among these maps. Thus, the positions of random amplified polymorphic DNAs, sequenced characterized amplified regions, simple sequence repeat, restriction fragment length polymorphisms, and fluorescent amplified fragment length polymorphism markers were compared in four maps. A previously unreported map was constructed in a narrow cross (processing line 2A × Gy8; C. s. var. sativus; ≈7% polymorphism) and compared with the three published maps [two narrow-based (processing type; C. s. var. sativus; 8% to 12% polymorphism) and a broad-based (C. s. var. sativus × C. s. var. hardwickii (R.) Alef. ≈12%)]. Common makers were identified in seven linkage groups, providing evidence for microsynteny. These common markers were used as anchor markers for map position comparisons of yield component quantitative trait loci. The relative order of anchor markers in each of six linkage groups (linkage groups 1, 2, and 4–7) that had two or more anchor markers within each group was colinear, and instances of microsynteny were detected. Commonalities in the position of some yield component quantitative trait loci exist in linkage groups 1 and 4 of the maps examined, and the general synteny among these maps indicates that identification and mapping of additional anchor markers would lead to successful map merging to increase cucumber map saturation for use in cucumber breeding.
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Vadva, Larsen, Propp, Trautwein, Alford, and Alper. "A New Pedigree-Based SNP Haplotype Method for Genomic Polymorphism and Genetic Studies." Cells 8, no. 8 (August 5, 2019): 835. http://dx.doi.org/10.3390/cells8080835.
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Single nucleotide polymorphisms (SNPs) are usually the most frequent genomic variants. Directly pedigree-phased multi-SNP haplotypes provide a more accurate view of polymorphic population genomic structure than individual SNPs. The former are, therefore, more useful in genetic correlation with subject phenotype. We describe a new pedigree-based methodology for generating non-ambiguous SNP haplotypes for genetic study. SNP data for haplotype analysis were extracted from a larger Type 1 Diabetes Genetics Consortium SNP dataset based on minor allele frequency variation and redundancy, coverage rate (the frequency of phased haplotypes in which each SNP is defined) and genomic location. Redundant SNPs were eliminated, overall haplotype polymorphism was optimized and the number of undefined haplotypes was minimized. These edited SNP haplotypes from a region containing HLA-DRB1 (DR) and HLA-DQB1 (DQ) both correlated well with HLA-typed DR,DQ haplotypes and differentiated HLA-DR,DQ fragments shared by three pairs of previously identified megabase-length conserved extended haplotypes. In a pedigree-based genetic association assay for type 1 diabetes, edited SNP haplotypes and HLA-typed HLA-DR,DQ haplotypes from the same families generated essentially identical qualitative and quantitative results. Therefore, this edited SNP haplotype method is useful for both genomic polymorphic architecture and genetic association evaluation using SNP markers with diverse minor allele frequencies.
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Usman, Muhammad Bello, Kanu Priya, Soumya Pandit, Piyush Kumar Gupta, Sharad Agrawal, Hemen Sarma, and Ram Prasad. "Genetic Polymorphisms and Pesticide-Induced DNA Damage: A Review." Open Biotechnology Journal 15, no. 1 (July 14, 2021): 119–30. http://dx.doi.org/10.2174/1874070702115010119.
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The drastic increase in pesticide applications makes human exposure inevitable either through environment or occupation. Pesticide toxicity causes many adverse health effects through a number of pathways leading to DNA damage, mutations and cancers. Nevertheless, there is heterogeneity in the degree of toxicity among individuals due to the influence of genetic polymorphisms on xenobiotic metabolizing enzymes (XMEs) that modulate the biological process. Thus, study of the most common polymorphic genes coding for the enzymes involved in pesticide metabolism (such as cytochrome P450, Glutathione S-transferases, N-acetyltransferase and paraoxonase) may help determine individual’s susceptibility to pesticide toxicity. In this review, we give an overview of some recent developments in the field of genetic polymorphism and pesticide-related DNA damage, including probable biomarkers that may uncover genome susceptibility to pesticide toxicity. We have tried to create a connection between DNA polymorphism and cancer onslaught globally. It is envisaged that knowledge on this line would improve our understanding of facilitating the association between genotype and phenotype in cancer biology.
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Mantovani, Paola, Gerard van der Linden, Marco Maccaferri, Maria Corinna Sanguineti, and Roberto Tuberosa. "Nucleotide-binding site (NBS) profiling of genetic diversity in durum wheat." Genome 49, no. 11 (November 2006): 1473–80. http://dx.doi.org/10.1139/g06-100.
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Molecular markers are effective tools to investigate genetic diversity for resistance to pathogens. NBS (nucleotide-binding site) profiling is a PCR (polymerase chain reaction)-based approach to studying genetic variability that specifically targets chromosome regions containing R-genes and R-gene analogues. We used NBS profiling to measure genetic diversity among 58 accessions of durum wheat. Mean polymorphism rates detected using MseI and AluI as restriction enzymes were 34% and 22%, respectively. Mean number of polymorphisms per enzyme–primer combination was equal to 23.8 ± 5.9, ranging from 13 to 31 polymorphic bands. In total, 96 markers over 190 indicated a good capacity to discriminate between accessions (the polymorphic index content ranging from 0.30 to 0.50). The results obtained with NBS profiling were compared with simple sequence repeat (SSR) and amplified fragment length polymorphism (AFLP) data of the same set of accessions. The genetic distances computed with 190 NBS profiling markers were in close agreement with those obtained with AFLP and SSR markers (r = 0.73 and 0.76, respectively). Our results indicate that NBS profiling provides an effective means to investigate genetic diversity in durum wheat.
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Siddique, Imad, K. Scott Brimble, Louise Walkin, Angela Summers, Paul Brenchley, Sarah Herrick, and Peter J. Margetts. "Genetic Polymorphisms and Peritoneal Membrane Function." Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, no. 5 (September 2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.
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BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status peritoneal membrane, risk for peritonitis, encapsulating peritoneal sclerosis (EPS), patient and technique survival. We combined data from studies which evaluated the same genetic polymorphism and the same outcome.ResultsWe evaluated 18 relevant studies. All studies used a candidate gene approach. Gene polymorphisms in the interleukin (IL)-6 gene were associated with peritoneal membrane solute transport in several studies in different ethnic populations. Associations with solute transport and polymorphisms in endothelial nitric oxide synthase and receptor for advanced glycation end product genes were also identified. There was evidence of a genetic predisposition for peritonitis found in 2 studies, and for EPS in 1 study. Survival was found to be associated with a polymorphism in vascular endothelial growth factor and technique failure was associated with a polymorphism in the IL-1 receptor antagonist.ConclusionsThere is evidence that characteristics of the peritoneal membrane and clinical outcomes for PD patients have genetic determinants. The most consistent association was between IL-6 gene polymorphisms and peritoneal membrane solute transport.
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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi, et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy." European Psychiatry 41, S1 (April 2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.
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IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, paliperidone palmitate, risperidon and aripiprazole), were examined. We carried out a blood sampling to evaluate dopaminergic DRD2 and glutamatergic GRM3 genetic receptors polymorphisms. PANSS and BPRS scales were used to assess clinical condition.ResultsRegarding the GRM3 genes, the study of rs2228595 and rs6465084 polymorphisms showed a prevalence of wild type genotypic frequency of 81.2% and 56.2%, respectively. The prevalence of the patients with mutated heterozygote genotype (rs6465084 polymorphisms) resulted high (40.6%). Considering rs1989796 e rs274622 polymorphisms, the sample showed a prevalence of mutated heterozygote genotype in the 53.1% e 45.3%, respectively, with a percentage of 43.7% of patients with a mutation in homozygosis. Considering the rs146812 polymorphism, the 53.1% of patients resulted with a wild type genotype. Finally, findings showed a prevalence of 56.2% for the mutated heterozygote genotype in the DRD2 rs6277 polymorphism. The genotypic categorization analysis demonstrated a significative association between the GRM3 rs274622 polymorphism and higher BPRS scores.ConclusionsThe relationship between rs274622 polymorphism and worse clinical conditions could indicate a major resistance to long-acting antipsychotics in patients with genotypic frequency CT (mutated heterozygosis) for this polymorphism.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Holland, J. B., S. J. Helland, N. Sharopova, and D. C. Rhyne. "Polymorphism of PCR-based markers targeting exons, introns, promoter regions, and SSRs in maize and introns and repeat sequences in oat." Genome 44, no. 6 (December 1, 2001): 1065–76. http://dx.doi.org/10.1139/g01-110.
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Sequence databases could be efficiently exploited for development of DNA markers if it were known which gene regions reveal the most polymorphism when amplified by PCR. We developed PCR primer pairs that target specific regions of previously sequenced genes from Avena and Zea species. Primers were targeted to amplify 40 introns, 24 exons, and 23 promoter regions within 54 maize genes. We surveyed 48 maize inbred lines (previously assayed for simple-sequence repeat (SSR) polymorphism) for amplification-product polymorphism. We also developed primers to target 14 SSRs and 12 introns within 18 Avena genes, and surveyed 22 hexaploid oat cultivars and 2 diploid Avena species for amplification-product polymorphism. In maize, 67% of promoter markers, 58% of intron markers, and 13% of exon markers exhibited amplification-product polymorphisms. Among polymorphic primer pairs in maize, genotype diversity was highest for SSR markers (0.60) followed by intron markers (0.46), exon markers (0.42), and promoter markers (0.28). Among all Avena genotypes, 64% of SSR markers and 58% of intron markers revealed polymorphisms, but among the cultivars only, 21% of SSR markers and 50% of intron markers were polymorphic. Polymorphic-sequence-tagged sites for plant-breeding applications can be created easily by targeting noncoding gene regions.Key words: Avena, Zea, genetic diversity, DNA sequence.
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Janssen, Kirstin, Jan Ove Bustnes, and Nicholas I. Mundy. "Variation in Genetic Mechanisms for Plumage Polymorphism in Skuas (Stercorarius)." Journal of Heredity 112, no. 5 (July 1, 2021): 430–35. http://dx.doi.org/10.1093/jhered/esab038.
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Abstract Coloration is evolutionarily labile and so provides an excellent trait for examining the repeatability of evolution. Here, we investigate the repeatability of the evolution of polymorphic variation in ventral plumage coloration in skuas (Stercorarius: Stercorariidae). In 2 species, arctic (S. parasiticus) and pomarine skuas (S. pomarinus), plumage polymorphism was previously shown to be associated with coding changes at the melanocortin-1 receptor (MC1R) locus. Here, we show that polymorphism in a third species, the south polar skua (S. maccormicki), is not associated with coding variation at MC1R or with variation at a Z-linked second candidate locus, tyrosinase-related protein 1 (TYRP1). Hence, convergent evolution of plumage polymorphisms in skuas is only partly repeatable at the level of the genetic locus involved. Interestingly, the pattern of repeatability in skuas is aligned not with phylogeny but with the nature of the phenotypic variation. In particular, south polar skuas show a strong sex bias to coloration that is absent in the other species, and it may be that this has a unique genetic architecture.
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Zhang, Guoqiang, and Maohe Jin. "Genetic associations between CYP24A1 polymorphisms and predisposition of cancer: A meta-analysis." International Journal of Biological Markers 35, no. 4 (October 14, 2020): 71–79. http://dx.doi.org/10.1177/1724600820944408.
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Background: CYP24A1 polymorphisms may affect predisposition of cancer, but the results of published studies remain inconclusive. Therefore, the authors conducted this meta-analysis to more robustly assess relationships between CYP24A1 polymorphisms and the predisposition of cancer by pooling the findings of published studies. Materials and methods: A comprehensive literature search of PubMed, Embase, Web of Science, Wanfang, and CNKI was endorsed by the authors to identify eligible studies; 17 studies were finally found to be eligible for pooled meta-analysis. Results: The pooled meta-analysis results showed that genotypic frequencies of the rs4809960 polymorphism among cancerous patients and controls of Caucasian ethnicity differed significantly, and genotypic frequencies of the rs6022999 polymorphism among cancerous patients and controls of Asian ethnicity also differed significantly. Moreover, we found that genotypic frequencies of the rs2585428 polymorphism among patients with prostate cancer and controls differed significantly, and genotypic frequencies of the rs6068816 polymorphism among patients with prostate cancer/breast cancer and controls also differed significantly. Conclusions: This meta-analysis suggests that the rs4809960 polymorphism may affect the predisposition of cancer in Caucasians, and the rs6022999 polymorphism may affect the predisposition of cancer in Asians. Moreover, the rs2585428 polymorphism may affect the predisposition of prostate cancer, while the rs6068816 polymorphism may affect the predisposition of prostate cancer and breast cancer.
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Weeden, Norman F., Bruce I. Reisch, and Mary-Howell E. Martens. "Genetic Analysis of Isozyme Polymorphism in Grape." Journal of the American Society for Horticultural Science 113, no. 5 (September 1988): 765–69. http://dx.doi.org/10.21273/jashs.113.5.765.
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Abstract Genetic analysis of 11 allozyme polymorphisms was performed on the progeny of ‘Cayuga White’ × ‘Aurora’, two complex interspecific grape (Vitis) hybrids. Segregation for most of the polymorphisms closely approximated monogenic Mendelian ratios, and eight new isozyme loci were defined for grape. Joint segregation analysis among the isozyme loci revealed three multilocus linkage groups. These results demonstrate that sufficient allozyme polymorphism exists in grape to establish many multilocus linkage groups and that this genetic analysis can be accomplished using extant progeny or progeny readily produced from highly heterozygous clones.
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Jassim, Tabarak Sabah, and Rusul Waleed Ali. "Review Article: Genetic Polymorphism Studies and Insurgence of Human Genetic Diseases." Journal for Research in Applied Sciences and Biotechnology 1, no. 5 (January 2, 2023): 161–78. http://dx.doi.org/10.55544/jrasb.1.5.17.
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Single nucleotides polymorphism is the biological variant that affects people the most frequently (SNPs). Due of the link to hereditary illnesses, Polymorphisms are significant for hereditary investigations. Throughout this article, researchers examined a specific subset of SNPs that alter the sequencing of the related enzyme. Researchers created a brand-new technique that, beginning with sequencing data, can determine if a novel phenotypic resulting from an SNP is connected to a genetic abnormality. The greatest prevalent sort of genomic variability throughout the human genome is represented by solitary nucleotides polymorphism (SNPs). Understanding whether human genetic variants are associated with Chromosomal and complicated disorders is probably among a more essential objectives of SNP research. Non coding SNPs (NSSNPs), which cause solitary point mutations in molecules, are the subject of intense attention.
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Özkan, M., I. Koçyigit, M. Dikilitas, Y. Özkul, I. Sari, H. Karaca, F. Emirogullari, B. Eser, O. Er, and A. Unal. "The impact of genetic factors in the development of thrombosis in cancer patients." Journal of Clinical Oncology 27, no. 15_suppl (May 20, 2009): e22227-e22227. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22227.
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e22227 Background: Thromboembolism is frequent in patients with cancer. Although it is known that several acquired factors take place in this process, the role of the genetic factors is controversial. In this study we analysed the most common genetic polymorphisms which have a role in the development of thrombosis. Methods: Study population consists of 292 (158 with thrombosis and 134 without thrombosis) patients treated between 2004 and 2008. Thrombosis was diagnosed by clinically and radiological measures in any time during the course of disease. Factor V Leiden G1691A, Prothrombin G20210A, Methlene Tetra Hydrofolate Reductase (MTHFR) C677T and Plazminogen Activator Inhibitor (PAI-1) 4G/5G were analysed with PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism). Results: In the study group 48 and 1 patient had heterozygot and homozygot polymorphism for Factor V Leiden G1691A respectively. In the control group 32 heterozygot and 1 homozygot polymorphism and there was no statistically significant differents between study and control group (p=0,462).For Protrombin G20210A 11 and 4 heterozygot polymorphism were observed in control and study group respectively. While there was 1 homozygot polymorphism in study group there was no in control group and the difference between two groups was not statistically significant (p=0,198). For MTHFR C677T, 48 and 24 heterozygot polymorphism, 15 and 12 homozygot polymorphism were observed in study and control group respectively. The difference between two groups were statistically significant (p=0,04). There was no statistically significant difference between two groups for PAI-1 4G/5G polymorphisms (p=0,362). In subgroup analyses, statistically significant difference was found only in MTHFR C677T polymorphism in patients with GI cancer and with and without thrombosis (p=0,028). Conclusions: The studies investigating the relationship between genetic factors and thrombosis revealed controversial results. However, we found no genetic factor relevant to thrombosis other than MTHFR C677T polymorphism. Further studies investigating genetic and acquired factors in the development of the thrombosis in detail are warranted for documenting clearly the role of genetic polymorphisms. No significant financial relationships to disclose.
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Cordeiro, Quirino, Ricardo Noguti, Cássio M. C. Bottino, and Homero Vallada. "Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease." Arquivos de Neuro-Psiquiatria 68, no. 2 (April 2010): 189–93. http://dx.doi.org/10.1590/s0004-282x2010000200007.
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Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a genotypic association between the BanI cPLA2 polymorphism and LOAD (χ2=6.25, 2df, p=0.04), however there was no allelic association. There were no associations between AvrII iPLA2 and Val279Phe PAFAH polymorphisms and LOAD. These data suggest that the BanI cPLA2 polymorphism may play a role in the susceptibility for LOAD in our Brazilian sample.
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Gimelfarb, A. "Pleiotropy and multilocus polymorphisms." Genetics 130, no. 1 (January 1, 1992): 223–27. http://dx.doi.org/10.1093/genetics/130.1.223.
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Abstract It is demonstrated that systems of two pleiotropically related characters controlled by additive diallelic loci can maintain under Gaussian stabilizing selection a stable polymorphism in more than two loci. It is also shown that such systems may have multiple stable polymorphic equilibria. Stabilizing selection generates negative linkage disequilibrium, as a result of which the equilibrium phenotypic variances are quite low, even though the level of allelic polymorphisms can be very high. Consequently, large amounts of additive genetic variation can be hidden in populations at equilibrium under stabilizing selection on pleiotropically related characters.
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Dal Vesco, Lirio L., Valdir M. Stefenon, Leocir J. Welter, Neusa Steiner, and Miguel P. Guerra. "Conservation of Billbergia zebrina genetic resources: AFLP polymorphism of in vitro regenerated genotypes." Plant Genetic Resources 10, no. 1 (December 12, 2011): 20–23. http://dx.doi.org/10.1017/s1479262111000918.
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Biotechnological techniques comprise useful tools for the conservation of endangered plant genetic resources. In the present work, polymorphism and usefulness of amplified fragment length polymorphism (AFLP) markers in assessing the genetic diversity in populations of Billbergia zebrina were investigated in nodular cultures and adult plants of the species. AFLP markers revealed moderate-to-high genetic diversity based on the estimations of Nei's gene diversity (mean He = 0.28), Shannon index of diversity (mean HS = 0.48) and the number of polymorphic fragments (mean of 56.17 polymorphic fragments over six primer pairs). In comparison to published studies of population genetics performed in other bromeliad species, the present study suggests that natural populations of B. zebrina likely maintain high levels of genetic diversity, an important feature towards conservation of plant genetic resources. The results obtained reveal that AFLP markers comprise a powerful tool in order to assess the levels of genetic diversity in natural populations of this endangered species. Integrating AFLP markers with in vitro propagation techniques is understood as an adequate strategy for conservation programmes of this species.
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Makowska-Kaczmarska, Marzena, Anna Okoń, and Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment." Forum Ortodontyczne 13, no. 1 (March 1, 2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.
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Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed. Special attention was placed on the latest studies on the human genome, especially focused on gene polymorphisms in the global population. Summary. Pathogenesis of root resorption during orthodontic treatment is complex. Its background is undoubtedly genetic. Gene polymorphism is important. The role of polymorphism of the interleukin-1B gene and other genes in the interleukin-1 cluster draws special attention. Identification of genetic factors that play an important role in the aetiology of root resorption may in the future help to identify patients susceptible to such complications even before the beginning of orthodontic treatment. Potential possibilities of DNA testing in clinical practice are enormous. The role of individual gene polymorphisms in the pathogenesis of root resorption has not been yet explained in detail and further multicentre studies are necessary. At this stage of studies no reliable markers have been detected in order to predict which patients would develop this complication. (Makowska- Kaczmarska M, Okoń A, Olszewska E. Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment. Orthod Forum 2017; 13: 36-42).
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Escalante, Ananias A., Altaf A. Lal, and Francisco J. Ayala. "Genetic Polymorphism and Natural Selection in the Malaria Parasite Plasmodium falciparum." Genetics 149, no. 1 (May 1, 1998): 189–202. http://dx.doi.org/10.1093/genetics/149.1.189.
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Abstract We have studied the genetic polymorphism at 10 Plasmodium falciparum loci that are considered potential targets for specific antimalarial vaccines. The polymorphism is unevenly distributed among the loci; loci encoding proteins expressed on the surface of the sporozoite or the merozoite (AMA-1, CSP, LSA-1, MSP-1, MSP-2, and MSP-3) are more polymorphic than those expressed during the sexual stages or inside the parasite (EBA-175, Pfs25, PF48/45, and RAP-1). Comparison of synonymous and nonsynonymous substitutions indicates that natural selection may account for the polymorphism observed at seven of the 10 loci studied. This inference depends on the assumption that synonymous substitutions are neutral, which we test by analyzing codon bias and G+C content in a set of 92 gene loci. We find evidence for an overall trend towards increasing A+T richness, but no evidence for mutation bias. Although the neutrality of synonymous substitutions is not definitely established, this trend towards an A+T rich genome cannot explain the accumulation of substitutions at least in the case of four genes (AMA-1, CSP, LSA-1, and PF48/45) because the G↔C transversions are more frequent than expected. Moreover, the Tajima test manifests positive natural selection for the MSP-1 and, less strongly, MSP-3 polymorphisms; the McDonald-Kreitman test manifests natural selection at LSA-1 and PF48/45. We conclude that there is definite evidence for positive natural selection in the genes encoding AMA-1, CSP, LSA-1, MSP-1, and Pfs48/45. For four other loci, EBA-175, MSP-2, MSP-3, and RAP-1, the evidence is limited. No evidence for natural selection is found for Pfs25.
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Zihlif, Malek, Amer Imraish, Baeth Al-Rawashdeh, Aya Qteish, Raihan Husami, Rawand Husami, Farah Tahboub, Yazun Jarrar, and Su-Jun Lee. "The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients." Journal of Personalized Medicine 11, no. 5 (April 22, 2021): 329. http://dx.doi.org/10.3390/jpm11050329.
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Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.
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Baum, Larry, and Eric Baum. "Progressive Diseases: Interpretation of Genetic Data." Journal of Theoretical Medicine 2, no. 1 (1999): 1–7. http://dx.doi.org/10.1080/17486709909490784.
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Simple modeling is proposed to represent the screening of gene polymorphisms for association with a progressive disease of insidious onset such as Alzheimer's disease. The modeling demonstrates that when a polymorphism affects the rate of progression as well as the risk of disease, the correct interpretation of DNA data requires an accurate sampling of the living, diseased population. Furthermore, in this population, the effect of the polymorphism on disease risk cannot be distinguished from a corresponding effect on the rate of progression of the disease, and a null result does not preclude a significant effect of the gene on the disease. By contrast, when the population is sampled either at time of diagnosis or at autopsy, the effect of the polymorphism on disease frequency can be directly related to the frequency of the polymorphism in the sample, but evaluating the rate of disease progression requires additional data. When the only available data are obtained from a live patient population, substantial differences in interpretation can result from subtle differences in the patient selection protocol. When existing DNA databases are used in which this protocol is not well characterized, there is a corresponding uncertainty introduced into the deduced effect of the polymorphism on disease risk and rate of progression.
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Beletskaya, Inessa S., Sergey Yu Astakhov, Tatiana L. Karonova, Olga V. Galkina, Evdokia O. Bogdanova, Evgeniy L. Akopov, and Alexandra A. Kozyreva. "Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism." Ophthalmology journal 11, no. 2 (June 15, 2018): 19–28. http://dx.doi.org/10.17816/ov11219-28.
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Purpose. To study the possible association of 25-hydroxyvitamin D level, and vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, TaqI, FokI) with pseudoexfoliative glaucoma (PEG) clinical manifestations.
Methods. We examined 160 subjects (72 males (45%), and 88 females (55%)) aged from 55 to 75 years, residents of St. Petersburg and Leningrad region. 122 patients with PEG were enrolled in the main study group, the control group comprised 38 subjects without PEG, primary open angle glaucoma (POUG) and pseudoexfoliation syndrome (PES). 25(OH)D serum levels were assessed by chemiluminescent immunoassay (CLIA) method. Detection of VDR gene allele polymorphisms (ApaI, BsmI, FokI, and TaqI) was carried out using polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP) technique.
Results. Patients with PEG had lower 25(OH)D serum levels compared to patients in the control group (39.3 ± 1.2 and 52.7 ± 2.1 nMol/l, respectively, p < 0.01). The prevalence of vitamin D deficiency was found to be higher among PEG patients than among healthy subjects (86.4% and 59.5%, respectively, p < 0.01). The prevalence of b allele (p < 0.001) and bb genotype (p < 0.001) (BsmI polymorphism), as well as of f allele and ff genotype (p < 0.05) (FokI polymorphism) in PEG patients were higher compared to healthy subjects. We found that the Fallele carriers (FokI polymorphism) had greater corneal thickness than the ff genotype carriers (547.3 ± 4.1 μm and 502.1 ± 25.8 μm, respectively, p < 0.01). It was revealed, that bb genotype, Bb genotype (BsmI polymorphism), and ff genotype (FokI polymorphism) were associated with the increased risk of PEG (OR = 8.2, CI 95%: 3.4-19.9; OR = 3.9, CI 95%: 1.7-9.0; OR = 2.3, CI 95%: 1.2-4.5, respectively).
Conclusions. Results of this study for the first time ever showed the association between BsmI and FokI VDR gene polymorphisms and pseudoexfoliative glaucoma.
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Matsuo, Hitoshi, Tomonori Segawa, Sachiro Watanabe, Kimihiko Kato, Takeshi Hibino, Kiyoshi Yokoi, Sahoko Ichihara, et al. "Assessment of genetic risk for myocardial infarction." Thrombosis and Haemostasis 96, no. 08 (2006): 220–27. http://dx.doi.org/10.1160/th06-02-0117.
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SummaryAlthough lifestyle and environmental factors influence the prevalence of myocardial infarction, genetic epidemiological studies have suggested that several genetic variants increase the risk for this condition. We have performeda large-scale association study to identify gene polymorphisms for reliable assessment of the genetic risk of myocardial infarction. The study population comprised 3,483 unrelated Japanese individuals (1,913 men; 1,570 women), including 1,192 subjects with myocardial infarction and 2,291 controls. The genotypes for 164 polymorphisms of 137 candidate genes were determined with an oligonucleotide ligation assay based on analysis of fluorescent microspheres with suspension array technology. Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hypercholesterolemia revealed that the 677C→T (Ala222Val) polymorphism of MTHFR, the 1595C→G (Ser447Stop) polymorphism of LPL, and the –108/3G→4G polymorphism of IPF1 were significantly associated with the prevalence of myocardial infarction. A stepwise forward selection procedure demonstrated that IPF1, MTHFR, and LPL genotypes significantly affected the prevalence of myocardial infarction. Combined genotype analysis of these polymorphisms yieldeda maximum odds ratio of 2.54 for the combined genotype of TT for MTHFR,CC for LPL,and 3G3G for IPF1.The genotypes for MTHFR, LPL, and IPF1 may prove reliable for assessment of genetic risk for myocardial infarction. Determination of the combined genotype for these genes may contribute to primary, personalized prevention of this condition.
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Barros, Jéssica Barletto de Sousa, Kamilla de Faria Santos, Rômulo Morais Azevedo, Rayana Pereira Dantas de Oliveira, Ana Carolina Dourado Leobas, Dhiogo da Cruz Pereira Bento, Rodrigo da Silva Santos, and Angela Adamski da Silva Reis. "No association of GSTP1 rs1695 polymorphism with amyotrophic lateral sclerosis: A case-control study in the Brazilian population." PLOS ONE 16, no. 2 (February 19, 2021): e0247024. http://dx.doi.org/10.1371/journal.pone.0247024.
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Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. It has a multifactorial etiology, where environmental conditions playing a remarkable role through the increase of oxidative stress. Genetic polymorphisms in cell detoxification genes, such as Glutathione S-Transferase Pi 1 (GSTP1) can contribute to excessive oxidative stress, and therefore may be a risk factor to ALS. Thus, this study aimed to investigate the role of the GSTP1 rs1695 polymorphism in ALS susceptibility in different genetic inheritance models and evaluate the association of the genotypes with risk factors, clinical and demographic characteristics of ALS patients from the Brazilian central population. This case-control study was conducted with 101 patients with ALS and 101 healthy controls. GSTP1 rs1695 polymorphism genotyping was performed with Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR-RFLP). The statistical analysis was carried out using the SPSS statistical package and SNPStats software. Analysis of genetic inheritance models was performed by logistic regression, which was used to determine the Odds Ratio. The results of this first study in the Brazilian population demonstrated that there was no risk association between the development of ALS and the GSTP1 rs1695 polymorphism in any genetic inheritance model (codominant, dominant, recessive, overdominant, and logarithmic); and that the polymorphic variants were not associated with the clinical and demographic characteristics of ALS patients. No association of the GSTP1 rs1695 polymorphism and ALS development in the Brazilian central population was found. These findings may be justified by the multifactorial character of the disease.
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Diao, Hong-Mei, Zheng-Feng Song, and Hai-Dong Xu. "Association between MTHFR genetic polymorphism and Parkinson’s disease susceptibility: a meta-analysis." Open Medicine 14, no. 1 (August 17, 2019): 613–24. http://dx.doi.org/10.1515/med-2019-0069.
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AbstractFolate metabolism plays quite a critical role in Parkinson’s disease (PD). Previous published research works have studied the link existing between the folate metabolism genetic polymorphisms and PD susceptibility; nevertheless, the results continue having controversies and inconclusiveness. Accordingly, we carried out the present meta-analysis for the assessment of the potential link between the folate metabolism genetic polymorphisms and the susceptibility to PD. In addition we carried out a literature search in the PubMed, EMBASE, Cochrane Library, and WanFang databases till November 10, 2018. The odds ratios (ORs) with corresponding 95% credible interval (95%CI) were put to use for evaluating the strength of the association of three folate metabolism genetic polymorphism ( C677T, A1298C, and A2756G) with the susceptibility to PD. Each statistical analysis was carried out with the use of STATA 15.0. An aggregate of twenty-one case-control investigations were retrieved, which involved 3,944 PD patients and 4,412 controls. We discovered the existence of no substantial link between the C677T and A1298C polymorphism and PD risk in any genetic framework comparisons. With regard to A2756G polymorphism, we discovered that there was an association between the A2756G genetic polymorphism and an augmented threat of PD in the co-dominant genetic framework (GG vs. AA: OR=1.86, 95%CI=1.02-3.37, P=0.042) and the recessive genetic model (GG vs. GA+AA: OR=1.90, 95%CI=1.06-3.41, P=0.031). To summarize, our research work indicates that the A2756G polymorphism of the folate metabolism gene had an association with an augmented threat of PD. Also, A1298C polymorphisms is unlikely to significantly contribute towards the susceptibility to PD. Further large-scale case-control studies are still required.
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Canavy, I., M. Henry, P. E. Morange, L. Tiret, O. Poirier, A. Ebagosti, M. Bory, and I. Juhan-Vague. "Genetic Polymorphisms and Coronary Artery Disease in the South of France." Thrombosis and Haemostasis 83, no. 02 (2000): 212–16. http://dx.doi.org/10.1055/s-0037-1613788.
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SummaryVascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G polymorphism of the plasminogen-activator inhibitor 1 [PAI-1] gene, and the G to T common point mutation in exon 2, codon 34 of the Factor XIII A-subunit gene) were examined.We assessed the genotype distribution in consecutive coronary artery disease (CAD) patients with MI (n = 201) and vasospastic angina pectoris (n = 43) and in 244 healthy controls comparable in age, sex, body mass index and total cholesterol level.The genotype distribution of AT1R polymorphism was significantly different between controls and patients, the prevalence of the C allele carriers being higher in patients with MI after the age of 45 than in control individuals (61 vs 45%, p <0.01), leading to an odds ratio (OR) of 2 (CI: 1.2-3.4). When looking at the group of patients with vasospastic angina the difference was even higher (76 vs 45%, p <0.01) yielding an OR of 4.3 (CI: 1.4-17.4). Genotype distributions of ACE, PAI-1 and Factor XIII polymorphisms were similar in patients and in controls.This study is in favor of a role of AT1R gene polymorphism in myocardial infarction and vasospastic angina.
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Riley, M. A., M. E. Hallas, and R. C. Lewontin. "Distinguishing the forces controlling genetic variation at the Xdh locus in Drosophila pseudoobscura." Genetics 123, no. 2 (October 1, 1989): 359–69. http://dx.doi.org/10.1093/genetics/123.2.359.
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Abstract Fifty-eight isochromosomal lines sampled from two natural populations of Drosophila pseudoobscura in California and one from Bogota, Colombia, were examined using four-cutter restriction mapping. A 4.6-kb region of the xanthine dehydrogenase locus was probed and 66 of 135 restriction sites scored were polymorphic. This predicts that on average every 12th bp would be polymorphic in this region for the genes surveyed if polymorphism occurred randomly along the coding region. In addition, there were 12 insertion/deletion polymorphisms. Forty-nine distinct haplotypes were recognized in the 58 lines examined. The most common haplotype obtained a frequency of only 5%. Measures of base pair heterozygosity (0.0097) and linkage disequilibrium lead to a predicted population size in the range of 1.2-2.4 X 10(6) for the species. High levels of recombination (including gene conversion) can be inferred from the presence of all four gametic types in the data set.
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Soeda, Moe, Seii Ohka, Daisuke Nishizawa, Junko Hasegawa, Kyoko Nakayama, Yuko Ebata, Tatsuya Ichinohe, Ken-ichi Fukuda, and Kazutaka Ikeda. "Cold pain sensitivity is associated with single-nucleotide polymorphisms of PAR2/F2RL1 and TRPM8." Molecular Pain 17 (January 2021): 174480692110020. http://dx.doi.org/10.1177/17448069211002009.
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Pain sensitivity differs individually, but the mechanisms and genetic factors that underlie these differences are not fully understood. To investigate genetic factors that are involved in sensing cold pain, we applied a cold-induced pain test and evaluated protease-activated receptor 2 (PAR2/F2RL1) and transient receptor potential melastatin 8 (TRPM8), which are related to pain. We statistically investigated the associations between genetic polymorphisms and cold pain sensitivity in 461 healthy patients who were scheduled to undergo cosmetic orthognathic surgery for mandibular prognathism. We found an association between cold pain sensitivity and the rs2243057 polymorphism of the PAR2 gene. We also found a significant association between cold pain sensitivity and the rs12992084 polymorphism of the TRPM8 gene. Carriers of the minor A allele of the rs2243057 polymorphism of PAR2 and minor C allele of the rs12992084 polymorphism of TRPM8 exhibited a longer latency to pain perception in the cold-induced pain test, reflecting a decrease in cold pain sensitivity. These results suggest that genetic polymorphisms of both PAR2 and TRPM8 are involved in individual differences in cold pain sensitivity.
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Nikolishin, A. E., V. M. Brodyansky, N. A. Chuprova, A. V. Solovieva, and A. O. Kibitov. "Genetic features of the dopaminergic neurotransmitter system in patients with alcohol dependence and depression comorbidity." V.M. BEKHTEREV REVIEW OF PSYCHIATRY AND MEDICAL PSYCHOLOGY, no. 4-1 (December 9, 2019): 112–14. http://dx.doi.org/10.31363/10.31363/2313-7053-2019-4-1-112-114.
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Aim. Test the hypothesis about the effect of polymorphisms of the DA system on the risk of developing depression in patients with alcohol dependence. Material and methods. 104 patients: 64 patients with a combination of diagnoses of “alcohol dependence” and “depression” (F10.2 and F32, F33 according to ICD-10, average age 41.23 ± 9.903 years) and 40 patients with a diagnosis of alcohol dependence (F10 .2 according to ICD-10, average age 45.57 ± 10.853 years) and 113 control (average age 43.65 ± 4.318 years). Results. In patients with a combination of AD and depression, the frequency of occurrence of the C allele C polymorphism rs1611115 of the DBH gene is higher than in the control group (p = 0.087, trend). In patients with a combination of AD and depression, the frequency of occurrence of the A allele of the rs1108580 polymorphism of the DBH gene is higher than in patients with AD (p = 0.059, trend). In patients with AD allele A, the DBH gene rs1108580 polymorphism increases the risk of depression by 174.0% (p = 0.009), the DBH gene rs1108580 AA polymorphism increases the risk of depression by 684.1% (p = 0.010), the rs1108580 gene AG polymorphism rs1108580 in the gene DBH increases the risk of depression by 261.1% (p = 0.010). Conclusion. It has been shown for the first time that polymorphic variants of the rs1108580 locus of the DBH gene act as important risk factors for depression in patients with AD. Polymorphism rs1611115 of the DBH gene can also play an important role in the development of depression in patients with AD, which requires further study.
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Levi, Amnon, Claude E. Thomas, M. Newman, O. U. K. Reddy, X. Zhang, and Y. Xu. "ISSR and AFLP Markers Differ among American Watermelon Cultivars with Limited Genetic Diversity." Journal of the American Society for Horticultural Science 129, no. 4 (July 2004): 553–58. http://dx.doi.org/10.21273/jashs.129.4.0553.
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Wide phenotypic diversity exists among American heirloom cultivars of watermelon (Citrullus lanatus var. lanatus). However, in published studies, low or no polymorphism was revealed among those heirlooms using isozyme or randomly amplified polymorphic DNA (RAPD) markers. In this study, experiments with inter-simple sequence repeat (ISSR) [also known as simple sequence repeat-(SSR-) anchored primers] and amplified fragment-length polymorphism (AFLP) markers produced high polymorphisms among watermelon heirloom cultivars. ISSR (111) and AFLP (118) markers (229 total) identified 80.2% to 97.8% genetic similarity among heirloom cultivars. The phylogenetic relations based on ISSR and AFLP markers are highly consistent with the parental records available for some of the heirloom cultivars, providing confidence in the dendogram constructed for heirlooms based on similarity values. As compared with RAPD markers, ISSRs and AFLPs are highly effective in differentiating among watermelon cultivars or elite lines with limited genetic diversity.
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Singh, Shweta, Gourdas Choudhuri, and Sarita Agarwal. "Frequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data." Scientific World Journal 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/763195.
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Objectives. Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes.Methods. 150 CP patients and 150 normal controls were enrolled consecutively. We analyzed SPINK-1 N34S and IVS3+2T>C gene mutations by PCR-restriction-fragment length polymorphism (RFLP). The identification of DF508, G551D, G542X, R117H, and W1282X mutations was carried out by ARMS-PCR. S549N mutation, IVS8 polyTn polymorphism, and Cathepsin B Lec26Val were analysed by PCR-RFLP, nested PCR, and PCR-RFLP plus sequencing, respectively.Results. We found a significant association of SPINK1 (N34S) gene polymorphism. IVS1−37T>C polymorphism shows linkage with 101A>G. 300 chromosomes belonging to the CFTR subgroup exhibited minor allele frequency of 0.04, 0.03, 0.03, 0.013, 0.006, and 0.02 for DF508, G452X, G551D, S549N, R117H, and IVS8 T5, respectively. Except for R117H and IVS8 T5 polymorphisms, all other mutations showed significant variation.Conclusion. Analysis of potential susceptibility variants is needed to support nature of the genes and environment in pancreatitis. This data may help establish genetic screening and prenatal setup for Indian population.
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Buer, Ha, Sa Rula, Zi Yuan Wang, Shu Fang, and Yu´e Bai. "Analysis of genetic diversity in Prunus sibirica L. in inner Mongolia using SCoT molecular markers." Genetic Resources and Crop Evolution 69, no. 3 (January 3, 2022): 1057–68. http://dx.doi.org/10.1007/s10722-021-01284-4.
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AbstractPopulation genetic diversity contributes to the protection and utilization of germplasm resources, especially via genetic breeding. In the present study, start codon targeted polymorphism (SCoT) molecular markers were used to study the genetic diversity of 278 individuals from 10 Prunus sibirica L. populations in Inner Mongolia. A total of 289 polymorphic bands were amplified with 23 SCoT primers, showing a polymorphism percentage of 98.87% and an average of 12.6 polymorphic bands per primer. The SCoT21, SCoT32, and SCoT53 primers amplified up to 17 bands, and the polymorphism percentage was 100%. The minimum number of bands amplified by SCoT25 was 9, and the polymorphism percentage was 90%. Therefore, SCoT molecular markers were shown to be highly polymorphic and suitable for genetic diversity studies of P. sibirica in Inner Mongolia. The analysis of molecular variance showed that 39% of the observed genetic differentiation occurred among populations and 61% occurred within populations, indicating that the genetic differentiation within populations was greater than that among populations. The results of the unweighted pair-group method with an arithmetic cluster analysis, principal coordinate analysis and STRUCTURE analysis were basically the same and divided the 278 individuals from the 10 populations into 2 groups. The results indicated that the efficient SCoT molecular marker-based genetic diversity analysis of P. sibirica in Inner Mongolia can provide a reference for P. sibirica variety breeding and resource development.
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Shalimova, Anna, Galyna Fadieienko, Olena Kolesnikova, Anna Isayeva, Vira Zlatkina, Valeriya Nemtsova, Kostyantyn Prosolenko, Valentyna Psarova, Natalia Kyrychenko, and Maryna Kochuieva. "The Role of Genetic Polymorphism in the Formation of Arterial Hypertension, Type 2 Diabetes and their Comorbidity." Current Pharmaceutical Design 25, no. 3 (May 30, 2019): 218–27. http://dx.doi.org/10.2174/1381612825666190314124049.
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Background: Hereditary component plays a significant role in the formation of insulin resistance (IR) - one of the pathogenetic links of arterial hypertension (AH) and type 2 diabetes mellitus (DM2). However, the genetic predisposition to IR can not be realized and does not manifest itself clinically in the absence of appropriate factors of the environment (excessive nutrition, low physical activity, etc.). Objective: The review summarizes the results of studies which describe the contribution of genetic polymorphism to the formation and progression of AH, DM2 and their comorbidity in various populations. Results: In many studies, it has been established that genetic polymorphism of candidate genes is influenced by the formation, course and complication of AH and DM2. According to research data, the modulating effect of polymorphism of some genetic markers of AH and DM2 on metabolism and hemodynamics has been established. The results of numerous studies have shown a higher frequency of occurrence of AH and DM2, as well as their more severe course with adverse genetic polymorphisms. At the same time, the role of genetic polymorphism in the formation of AH and DM2 differs in different populations. Conclusion: Contradictory data on the influence of gene polymorphisms on the formation of AH and DM2 in different populations, as well as a small number of studies on the combined effects of several polymorphisms on the formation of comorbidity, determine the continuation of research in this direction.
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Tuna, Gökhan, Tolga Polat, Özlem Özge Yilmaz, Sezgin Kapici, Canan Sercan Doğan, Isa Sağiroğlu, Mustafa Savaşan, Niyazi Güven Erdil, and Korkut Ulucan. "The Relationship between Swimming Styles and Il-6 Rs1800795 Polymorphism in Professional Swimmers." Pakistan Journal of Medical and Health Sciences 16, no. 7 (July 30, 2022): 444–46. http://dx.doi.org/10.53350/pjmhs22167444.
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Background: Athletic performance can be improved with regular training, the contribution of genetic factors, nutrition and psychological factors. The aim of this study is to determine the effect of IL-6 rs1800795 polymorphism in Turkish swimmers and to compare the results with sedentary individuals. Material and Methods: 75 people, including 45 professional swimmers and 30 healthy and sedentary individuals (control), participated in the study. DNA isolation from buccal specimens of athletes was performed using the commercial kit Invitrogen (Van Allen Way, Carlsbad, CA, USA). Genotyping was performed with real-time PCR. Results: GG genotype and G allele were found to be higher in athletes. GG genotype and G allele were found to be higher in the control group. There was no statistically significant difference between the athletes and controls in terms of IL-6 rs1800795 polymorphism. In our study, when the IL-6 rs1800795 gene polymorphism was compared between the groups in terms of swimming styles-distances and genotypes, no significant difference was found. Conclusion: Our study is the first to analyze the IL-6 rs1800795 polymorphism in Turkish swimmers. More studies are needed in terms of IL-6 rs1800795 to reveal the importance of genetic factors in determining the sports performance of the athlete and to clarify their effects on athletic performance. This first report, which includes relevant genetic markers and swimmers, will guide scientists for further studies. Keywords: Genetics, Polymorphisms, Sports Genetics, Single Nucleotide Polymorphism, Swimmers, IL-6