Relevant bibliographies by topics / Genetic polymorphism

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Academic literature on the topic 'Genetic polymorphism'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 March 2023

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Journal articles on the topic "Genetic polymorphism"

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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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Dissertations / Theses on the topic "Genetic polymorphism"

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Wang, Wei. "Plasminogen polymorphism in dairy cattle." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=26174.

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A genetic approach to lowering protease (plasmin) levels in milk, requires the presence of polymorphism of bovine plasminogen. This study was conducted to determine to what extent genetic polymorphism exists in dairy cattle. Bovine plasminogen was first purified from Holstein cow plasma by affinity chromatography on Lysine-Sepharose and antibodies to bovine plasminogen were raised by monthly intramuscular injection of the isolated bovine plasminogen into rabbits. For plasminogen phenotyping, blood samples were collected at random from 50 Holstein and Ayrshire cattle, and plasminogen was isolated from the plasma using lysine-Sepharose and then treated with neuraminidase. After separation by isoelectric focusing (pH 3.5-9.5) in polyacrylamide gels, Plasminogen polymorphs were detected immunologically using rabbit anti-bovine plasminogen antibodies. Additionally, the plasminogen isoforms were evaluated with a functional assay (caseinolytic overlay technique) after activation of the plasminogen with urokinase. Six plasminogen phenotypes were identified which represent products of 5 variant alleles. The 5 plasminogen variants were characterized based on their isoelectric points and designated PLG A$ sb2$ (pI 6.5 and 7.0), B$ sb2$ (pI 7.6 and 7.8), C$ sb1$ (pI 6.8), D$ sb2$ (pI 7.8 and 8.0), and E$ sb2$ (pI 6.8 and 7.0). PLG A$ sb2$ and PLG B$ sb2$ were the most common variants in these cattle. The 6 phenotypes were $ rm A sb2A sb2, B sb2B sb2, A sb2B sb2, B sb2C sb1, A sb2D sb2 and D sb2E sb2$. The phenotypic frequencies in Holstein and Ayrshire were very different, $ rm A sb2A sb2 and B sb2B sb2$ being respectively the most frequent phenotype. In addition, DNA polymorphism at bovine plasminogen gene was detected when genomic DNA was digested with the restriction enzyme Msp I and hybridized with mouse plasminogen cDNA. This is the first description of plasminogen polymorphism reported in dairy cattle. If different variants have altered activity, the detrimental effect
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Fonseca, Gutierrez Maria del Carmen. "Genetic polymorphism in systemic sclerosis." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409294.

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Loh, Yong-Hwee Eddie. "Genetic variation in fast-evolving East African cichlid fishes: an evolutionary perspective." Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.

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Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East African cichlids. We generated a valuable cichlid genomic resource of five low-coverage Lake Malawi cichlid genomes, from which the general properties of the genome were characterized. Nucleotide diversity of Malawi cichlids was low at 0.26%, and a sample genotyping study found that biallelic polymorphisms segregate widely throughout the Malawi species flock, making each species a mosaic of ancestrally polymorphic genomes. A second genotyping study expanded our evolutionary analysis to cover the entire East African cichlid radiation, where we found that more than 40% of single nucleotide polymorphisms (SNPs) were ancestral polymorphisms shared across multiple lakes. Bayesian analysis of genetic structure in the data supported the hypothesis that riverine species had contributed significantly to the genomes of Malawi cichlids and that Lake Malawi cichlids are not monophyletic. Both genotyping studies also identified interesting loci involved in important sensory as well as developmental pathways that were well differentiated between species and lineages. We also investigated cichlid genetic variation in relation to the evolution of microRNA regulation, and found that divergent selection on miRNA target sites may have led to differential gene expression, which contributed to the diversification of cichlid species. Overall, the patterns of cichlid genetic variation seem to be dominated by the phenomena of extensive sharing of ancestral polymorphisms. We thus believe that standing genetic variation in the form of ancestrally inherited polymorphisms, as opposed to variations arising from new mutations, provides much of the genetic diversity on which selection acts, allowing for the rapid and repeated adaptive radiation of East African cichlids.
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Anwar, Ghazanfar Ali. "Genetic polymorphism in proinflammatory cytokines in bronchiectasis." Thesis, University of Newcastle Upon Tyne, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.576646.

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Bronchiectasis is a disease characterised by chronic bronchial sepsis and exerts considerable morbidity in those affected. In approximately 50% of cases the aetiology is unknown (idiopathic), raising the possibility of genetic predisposition. Cytokines such as IL-1, IL-6, IL-8 and TNFα are potent neutrophil recruiting molecules and are abundant in bronchiectatic secretions. Cytokine polymorph isms can lead to constitutively high production, and have been associated with a number of chronic inflammatory states. Hypothesis: Gene polymorph isms associated with high cytokine production predispose to idiopathic bronchiectasis (IB). Aims and objectives: To determine if high production alleles of cytokines IL-1β, IL6, IL8, TNF and IFNG are associated with idiopathic bronchiectasis (I B). Frequencies of these alleles were compared in patients with IB, bronchiectasis of known cause and normal controls. Allele frequencies in IB were also correlated with clinical markers of disease severity. Methods Following ethical approval, prospectively recruited patients underwent extensive clinical. phenotyping. IB was established as a diagnosis of exclusion. Allele frequencies for candidate genes were determined by PCR, with control allele frequencies available from local blood donors. Comparisons were made by Chi Square tests. Results: 189 patients (95f, 94m), mean (SO) age 66.11 (11.52) years were recruited including 82 (43%) idiopathies, No differences in the candidate allele frequencies were found between IB with 200+ controls and bronchiectasis of known cause group (n=1 06). Within idiopathic group, IL8+781T, IL6-174C, and IL1B-511T alleles were significantly associated with daily sputum production. In addition, IL8+781T and IL6-174C were associated with high exacerbation frequency and positive Pseudomonas aeruginosa culture. IL-1 B+3953T was significantly under- represented in those with daily sputum production and positive Pseudomonas status. Conclusions: Gene polymorphisms predisposing to high cytokine production were not found to be associated with lB. Several alleles were found to significantly associated with more severe disease. Independent confirmation is required in an adequately powered study.
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Liu, Shuk Ming. "Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer /." View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.

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Thesis (M. Phil.)--Hong Kong University of Science and Technology, 2003.
Includes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.
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Hu, Yin. "Genetic polymorphism and regulation of cytochrome P450 2E1 /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3690-0.

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McLure, Craig Anthony. "Duplication and polymorphism with particular reference to regulators of complement activation." University of Western Australia. Centre for Molecular Immunology and Instrumentation, 2005. http://theses.library.uwa.edu.au/adt-WU2005.0103.

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[Truncated abstract] For the convenience of the reader, detailed figures and tables have been enlarged and compiled in Appendix 2, at the end of this thesis. This thesis is presented as an approach to identify, annotate and detect genomic duplication and polymorphism within large genomic regions. To demonstrate this, I have used as a model, the genomic region known as the Regulators of Complement Activation (RCA). The RCA complex is located on the long arm of chromosome 1 at position 1q32 and is a reservoir of complement regulatory proteins. The genes of the RCA share many similarities implying that all have arisen through multiple complex duplication events. My analysis of this region in the following chapters demonstrates the complexity of this duplication and identifies the many functional units within the RCA. It was my aim at the beginning of these studies to demonstrate an approach that could define the Ancestral Haplotypes (AHs) of the RCA gene cluster. To do this, extensive genomic analysis was required and the ever-increasing availability of genomic sequence has made this thesis possible. Each of the chapters serves to address the following aims set out at the beginning of this thesis: 1. Further characterise the relationship between the genes (Complement Control proteins-CCPs) and domains of the Regulators of Complement Activation (RCA). 2. Identify and examine the duplicated elements within the RCA. - 6 - 3. Examine the effects of retroviruses and other insertions and deletions (indels) in generating the divergence of duplicated genes. 4. Investigate the applicability of the Genomic Matching Technique (GMT) to define AH within the region. 5. Examine association of AHs with CCP implicated diseases. 6. Determine the GMT applicability in non-human species
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Singleton, Andrew B. "Genetic aspects of dementia." Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299652.

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Wu, Tsung-Sheng. "Functional characterization of sex hormone-binding globulin genetic polymorphism." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/53980.

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Human plasma SHBG is produced by the liver, and it transports biologically active sex steroids and determines their availability to target tissues. The 4.3 kb human SHBG transcriptional unit encoding a signal polypeptide for secretion followed by two laminin G (LG)-like domains is utilized by hepatocytes. The N-terminal LG domain of SHBG contains a region responsible for homodimer formation, and a steroid ligand-binding site that accommodates androgens and estrogens in opposite orientations. Among over 250 genetic polymorphisms identified in human SHBG, few are functionally characterized. In this research, I have performed a comprehensive analysis of functionally relevant SHBG single nucleotide polymorphisms (SNPs). Nine out of nineteen non-synonymous SNPs within the coding region of SHBG N-terminal LG domain were shown to encode SHBG mutants with abnormal properties in steroid ligand binding, calcium coordination, fibulin-2 interaction, glycosylation or secretion. In particular, SHBG R123H (encoded by rs143269613) has a general reduction in affinity for steroid ligands, whereas SHBG E176K (encoded by rs372114420) has a higher affinity specifically for estradiol. Crystallography revealed that instead of losing the structural integrity of the steroid-binding site, reduced flexibility of the loop region that covers the steroid-binding site, and conformational changes at the opening rim of a putative estradiol entrance, likely account for the abnormal steroid-binding affinities of SHBG R123H and SHBG E176K, respectively. Among eight SNPs within SHBG regulatory sequences selected for analysis, only rs138097069 increases SHBG promoter activity. In silico prediction revealed that rs138097069 is located within a putative FXR binding site, while rs6257, which is linked to low plasma SHBG concentrations, is located within a putative FOXA2 binding element. In HepG2 cells, GW4064-activated FXR and overexpressed FOXA2 both suppress SHBG expression by direct binding to their corresponding binding elements in an HNF4⍺-independent manner. By contrast, knock-down of FXR reduces, while knock-down of FOXA2 induces, HNF4⍺ expression and SHBG production. Characterization of functional SHBG SNPs has provided molecular explanations of how genetic differences contribute to SHBG production and function, and has identified possible roles for two novel regulators, FXR and FOXA2, in a more complex regulatory network that determines SHBG expression.
Medicine, Faculty of
Obstetrics and Gynaecology, Department of
Graduate
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Chaudhari, Savita. "Cytochrome P450 2D6, genetic polymorphism in subjects abusing cocaine." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp03/MQ34079.pdf.

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Books on the topic "Genetic polymorphism"

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Aga, Syed Sameer, Mujeeb Zafar Banday, and Saniya Nissar. Genetic Polymorphism and Disease. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244.

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1953-, Cronin M. T., and Miller Mark Steven 1956-, eds. Genetic polymorphisms and susceptibility to disease. London: Taylor & Francis, 2000.

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D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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D, Varfolomeyev S., and Zaikov Gennadiĭ Efremovich, eds. Molecular polymorphism of man: Structural and functional individual multiformity of biomacromolecules. Hauppauge, NY: Nova Science Publishers, 2009.

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Sameer, Aga Syed, Mujeeb Zafar Banday, and Saniya Nissar, eds. Genetic Polymorphism and cancer susceptibility. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-6699-2.

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Masatoshi, Nei, ed. Humanpolymorphic genes. New York: Oxford University Press, 1988.

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Caminiti, Benella. Genetics and polymorphisms of blood enzymes of nonhuman primates: A bibliography, 1970-1985. Seattle: Primate Information Center, Regional Primate Research Center, University of Washington, 1985.

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Endre, Czeizel, Benkmann Heide-G. 1942-, and Goedde H. W, eds. Genetics of the Hungarian population: Ethnic aspects, genetic markers, ecogenetics, and disease spectrum. Berlin: Springer Verlag, 1991.

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Torshin, Ivan Y. Sensing the change: From molecular genetics to personalized medicine. Hauppauge: Nova Science Publishers, 2009.

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May-Jean, King, ed. Human blood cells: Consequences of genetic polymorphisms and variations. London: Imperial College Press, 2000.

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Book chapters on the topic "Genetic polymorphism"

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Manji, Husseini K., Jorge Quiroz, R. Andrew Chambers, Anthony Absalom, David Menon, Patrizia Porcu, A. Leslie Morrow, et al. "Genetic Polymorphism." In Encyclopedia of Psychopharmacology, 553. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-540-68706-1_1517.

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Wagner, Peter, Frank C. Mooren, Hidde J. Haisma, Stephen H. Day, Alun G. Williams, Julius Bogomolovas, Henk Granzier, et al. "Genetic Polymorphism." In Encyclopedia of Exercise Medicine in Health and Disease, 361. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-540-29807-6_2433.

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Angel, Barbara. "Genetic Polymorphism." In Encyclopedia of Personality and Individual Differences, 1791–93. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-24612-3_754.

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Angel, Barbara. "Genetic Polymorphism." In Encyclopedia of Personality and Individual Differences, 1–3. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-28099-8_754-1.

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Yu, Tina. "Polymorphism and Genetic Programming." In Lecture Notes in Computer Science, 218–33. Berlin, Heidelberg: Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/3-540-45355-5_17.

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Kang, Jung Mook. "Host Factor: Genetic Polymorphism." In Helicobacter pylori, 103–10. Singapore: Springer Singapore, 2016. http://dx.doi.org/10.1007/978-981-287-706-2_7.

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Chaves-Medina, María Juliana, and Herney Andrés García-Perdomo. "Genomic Disturbances Associated with Penile Cancer and Novel Therapies." In Genetic Polymorphism and Disease, 507–12. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-24.

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Banday, Mujeeb Zafar, Saniya Nissar, and Syed Sameer Aga. "Genetic Polymorphisms – Classification, Structure, Detection and Function." In Genetic Polymorphism and Disease, 1–71. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-1.

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Kumar, Sachin, Rajiv Kumar Tonk, and Faheem Hyder Pottoo. "Role of Single Nucleotide Polymorphism of Cytochrome P450 Genes in Cancer Susceptibility." In Genetic Polymorphism and Disease, 401–19. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-18.

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Nissar, Saniya, Syed Sameer Aga, Mujeeb Zafar Banday, and Sabhiya Majid. "Single Nucleotide Polymorphisms and Parkinson's Disease Susceptibility." In Genetic Polymorphism and Disease, 217–31. Boca Raton: CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-9.

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Conference papers on the topic "Genetic polymorphism"

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Бородин, Евгений, Evgeniy Borodin, Павел Бородин, and Pavel Borodin. "GENETIC POLYMORPHISM." In XIII International Scientific Conference "System Analysis in Medicine". Far Eastern Scientific Center of Physiology and Pathology of Respiration, 2019. http://dx.doi.org/10.12737/conferencearticle_5d8335e350f955.82187693.

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Sudakov, A. I., E. P. Kulikov, S. A. Mertsalov, A. A. Nikiforov, and V. A. Grigorenko. "GENETIC POLYMORPHISM AND COLORECTAL CANCER." In NOVEL TECHNOLOGIES IN MEDICINE, BIOLOGY, PHARMACOLOGY AND ECOLOGY. Institute of information technology, 2022. http://dx.doi.org/10.47501/978-5-6044060-2-1.105-109.

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The article analyzes the relationship of polymorphism of a number of genes with some features of colorectal cancer, such as the aggressiveness of its course and development of the disease, the effectiveness of preoperative chemoradiotherapy. The data obtained can be used to deter-mine individual tactics for treating patients.
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Elewa, Hazem, Zainab Omer Ali, and Loulia Bader. "CYP2C19 Genetic Polymorphism Prevalence in Qataris." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2018. http://dx.doi.org/10.5339/qfarc.2018.hbpd660.

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Fabri, Júlia Campos, Maria Julia Filgueiras Granato, Maria Clara Lopes Rezende, Maria Luiza Franco de Oliveira, and Leandro de Souza Cruz. "The impact of genetic polymorphism in pain mechanisms." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.708.

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Background:Variations in genes codifying target structures in the nociceptive pathway can result in pain attenuation or increase.Objective:Investigate the genetic polymorphism influence in the individual pain threshold. Methods: Search on PubMed with the terms “genetic”, “pain” and its synonyms published in the last 10 years. Results:The subjective and individual mechanisms of pain aren’t completely understood, but genetic susceptibility is one of the hypothesis to explain these differences.The KCNK18 gene influences the synaptic transmission by producing potassium channel protein that equalizes resting membrane potential, calcineurin activated and inhibited by arachidonic acid. This gene was found more frequently in migraine individuals. The COMT gene increase the sensibility to pain by met-enkephalins reduction and/or catecholamine elevation. Its activity’s reduced in fibromyalgia patients. However, the OPRM1 gene, an opioid receptor, was found in individuals with a higher pain threshold.Furthermore, studies with human cell culture shows the analgesic role of the gene A118G, by its greater binding affinity for β-endorphin.It is associated with more effective endorphinergic endogenous pain inhibition. Conclusion:Researches indicates a striking participation of genetic polymorphism in pain mechanisms. The knowledge about genetic variables on pain perception can contribute to the development of individualized analgesic protocols and therapeutic strategies, accordantly to the patient genetic profile. This evolution becomes fundamental in a population that tend to the indiscriminate use of analgesics.
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Chelu, Cristina, Carmen Varlam, Gheorghe Titescu, and Gallia Butnaru. "Diversitatea moleculară a două ecotipuri de Datura inoxia provenite din vestul şi estul României." In International Scientific Symposium "Plant Protection – Achievements and Prospects". Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2020. http://dx.doi.org/10.53040/9789975347204.03.

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Molecular Diversity of two Ecotypes of Datura inoxia Originating from Western and Eastern Romania. To characterize genomic variation among genotypes, we have performed RAPD analysis using ten random primers. The results yielded 88 bands out of which 39 were polymorphic. The primers US1 and US7 showed 87.71% and 72.72% polymorphism respectively. The least polymorphism was shown by primer US9 (12.50%). The primer US15 did not produce any bands suggesting the absence of matching sequences in the genomic DNA. The dendrogram classified ecotypes into two clusters (A and B); cluster B possess three sub-clusters: B1 - Socodor 2; B2 - Flamura 1 and Flamura 2, and B3 - Flamura 3. Overall, the values of genetic similarity between ecotypes were low pointing out their particular origin and “evolution”.
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Tsuduki, K., H. Nakamura, T. Nakajima, T. Shirahata, S. Tsujimura, S. Yoshida, S. Takahashi, et al. "Genetic Polymorphism of E-Cadherin and COPD." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a2999.

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Prokhorova, E. E., and R. R. Usmanova. "GENETIC POLYMORPHISM OF SNAILS SUCCINEA PUTRIS (GASTROPODA, PULMONATA)." In V International Scientific Conference CONCEPTUAL AND APPLIED ASPECTS OF INVERTEBRATE SCIENTIFIC RESEARCH AND BIOLOGICAL EDUCATION. Tomsk State University Press, 2020. http://dx.doi.org/10.17223/978-5-94621-931-0-2020-33.

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Genotypic diversity of snails Succinea putris L. (Linnaeus, 1758) collected in the north-west of Russia and in the Republic of Belarus was analysed. Homology between the nucleotide sequences of snails from different population made up 100% by the nucleotide sequence of ITS1-5.8S-ITS2 region of rDNA. Genetic variability based on mitochondrial markers was insignificant. Average genetic distances between samples made up 0,009 for СOI gene loci and 0.008 for CytB gene loci. Was found ten haplotypes of the mitochondrial gene CytB and nine haplotypes of the mitochondrial gene СOI. Perhaps the genetic homogeneity of snails S. putris found in the study explains a low variability of their parasites, trematodes from the genus Leucochloridium.
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Rezende, Rubens Barbosa, and Larissa Teodoro. "Presence of genetic polymorphisms may impact on predisposition to Parkinson’s disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.004.

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Introduction: Parkinson’s disease (PD) is characterized by the degeneration and loss of dopaminergic neurons in the black substantia and the formation of Lewy bodies, thus being considered a neurodegenerative disease. Thus, the objective was to understand the impact of polymorphisms in the predisposition to PD. Methods: It’s a narrative review of literature in the PubMed and SciELO databases, using the descriptors: “Polymorphism, Single Nucleotide” and “Parkinson disease”, registered in DeCS/MeSH, and using the Boolean operator AND. The inclusion criteria were: complete articles and made available free of charge, published in English, Spanish and Portuguese, between 2016 and January 2021. Results: After the research, 167 publications were found and seven were included. The data from the first study indicate that the rs33949390 of the LRRK2 gene helps in predisposition to PD in Asian populations, mainly Chinese. The second study indicated that the NFE2L2 rs6721961 allele was linked to a reduced risk of PD. The third study found that the GSK3B rs1732170, STK11 rs8111699, SNCA rs356219 and FCHSD1 rs456998 polymorphisms were linked to a high risk of PD. The fourth study found that the SNCA variants rs7684318, rs356220, rs356203 and rs2736990 were linked to the disease and were at high risk of developing PD in the Mexican population. The fifth and sixth study are meta-analyzes, the fifth confirming the lower allele rs11558538 of HNMT is associated with a reduced risk of developing PD. And the sixth assumes a possible link between CCDC62 rs12817488 and the risk of PD in the Chinese population. Conclusion: However, the analyzed data indicate that the polymorphisms contributed to the susceptibility to PD, however further studies related to the polymorphisms and their relationship to PD are still needed for more ethnic groups, and thus early diagnosis is possible.
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V.N., Gaidamachenko, Alimova A.Sh., Vorobieva A.V., Golovinov I.V., and Nebesikhina N.A. "GENETIC CRITERIA FOR THE FORMATION OF BREEDING HERDS OF STELLATE STURGEON (STELLATUS)." In II INTERNATIONAL SCIENTIFIC AND PRACTICAL CONFERENCE "DEVELOPMENT AND MODERN PROBLEMS OF AQUACULTURE" ("AQUACULTURE 2022" CONFERENCE). DSTU-Print, 2022. http://dx.doi.org/10.23947/aquaculture.2022.44-46.

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For the formation of the broodstock, several criteria must be taken into account, one of the main ones is the genetic and sexual structure. This article indicates the criteria for the formation of the genetic structure of the broodstock. The broodstock should be provided with maximum polymorphism, which will give the highest fertility and preserve the gene pool of populations.
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TOLMACHEV, Oleg A., and Valery M. POZNYAKOVSKY. "Evolutionary Genetic Polymorphism and the Questions of Sports Nutrition Personalization." In XVIII International Scientific and Practical Conference "Modern Trends in Agricultural Production in the World Economy". Sibac, 2020. http://dx.doi.org/10.32743/kuz.agri.2020.157-164.

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Reports on the topic "Genetic polymorphism"

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Woldegiorgis, S., R. C. Ahmed, Y. Zhen, C. A. Erdmann, M. L. Russell, and R. Goth-Goldstein. Genetic polymorphism in three glutathione s-transferase genes and breast cancer risk. Office of Scientific and Technical Information (OSTI), April 2002. http://dx.doi.org/10.2172/799602.

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Mateva, Gergana, Karl Pedersen, Gitte Sorensen, Mia Torpdahl, and Hristo Daskalov. Genetic Polymorphism and Antimicrobial Resistance of Salmonella Enterica Serovar Enteritidis Isolates from Food Chain Sources. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, July 2021. http://dx.doi.org/10.7546/crabs.2021.07.04.

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Brinckerhoff, Constance E. Genetic Analysis of a Single Nucleotide Polymorphism in the Matrix Metalloproteinase 1 Promoter in Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, July 2002. http://dx.doi.org/10.21236/ada407580.

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Brinckerhoff, Constqance B. Genetic Analysis of a Single Nucleotide Polymorphism in the Matrix Metalloproteinase 1 Promoter in Breast Cancer. Fort Belvoir, VA: Defense Technical Information Center, July 2003. http://dx.doi.org/10.21236/ada419338.

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Kassem, Hala A., David J. Fryauff, Magdi G. Shehata, and Bahira M. El Sawaf. Enzyme Polymorphism and Genetic Variability of One Colonized and Several Field Populations of Phlebotomus papatasi (Diptera: Psychodidae). Fort Belvoir, VA: Defense Technical Information Center, January 1993. http://dx.doi.org/10.21236/ada266319.

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, January 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) determine causative polymorphisms based on concordance between the bulls’ genotypes for specific polymorphisms and their status for a QTL; (4) validate putative quantitative trait variants by genotyping a sample of Israeli Holstein cows; and (5) perform gene expression analysis using statistical methodologies, including determination of signatures of selection, based on somatic cells of cows that are homozygous for contrasting quantitative trait variants; and (6) analyze genes with putative quantitative trait variants using data mining techniques. Current methods for genomic evaluation are based on population-wide linkage disequilibrium between markers and actual alleles that affect traits of interest. Those methods have approximately doubled the rate of genetic gain for most traits in the U.S. Holstein population. With determination of causative polymorphisms, increasing the accuracy of genomic evaluations should be possible by including those genotypes as fixed effects in the analysis models. Determination of causative polymorphisms should also yield useful information on gene function and genetic architecture of complex traits. Concordance between QTL genotype as determined by the a posteriori granddaughter design and marker genotype was determined for 30 trait-by-chromosomal segment effects that are segregating in the U.S. Holstein population; a probability of <10²⁰ was used to accept the null hypothesis that no segregating gene within the chromosomal segment was affecting the trait. Genotypes for 83 grandsires and 17,217 sons were determined by either complete sequence or imputation for 3,148,506 polymorphisms across the entire genome. Variant sites were identified from previous studies (such as the 1000 Bull Genomes Project) and from DNA sequencing of bulls unique to this project, which is one of the largest marker variant surveys conducted for the Holstein breed of cattle. Effects for stature on chromosome 11, daughter pregnancy rate on chromosome 18, and protein percentage on chromosome 20 met 3 criteria: (1) complete or nearly complete concordance, (2) nominal significance of the polymorphism effect after correction for all other polymorphisms, and (3) marker coefficient of determination >40% of total multiple-regression coefficient of determination for the 30 polymorphisms with highest concordance. The missense polymorphism Phe279Tyr in GHR at 31,909,478 base pairs on chromosome 20 was confirmed as the causative mutation for fat and protein concentration. For effect on fat percentage, 12 additional missensepolymorphisms on chromosome 14 were found that had nearly complete concordance with the suggested causative polymorphism (missense mutation Ala232Glu in DGAT1). The markers used in routine U.S. genomic evaluations were increased from 60,000 to 80,000 by adding markers for known QTLs and markers detected in BARD and other research projects. Objectives 1 and 2 were completely accomplished, and objective 3 was partially accomplished. Because no new clear-cut causative polymorphisms were discovered, objectives 4 through 6 were not completed.
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Kim, Woorim, Young Ah Cho, Dong Chul Kim, and Kyung Eun Lee. Association between genetic polymorphism of GSTP1 and toxicities in patients receiving platinum-based chemotherapy: A systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, March 2022. http://dx.doi.org/10.37766/inplasy2022.3.0025.

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Sadka, Avi, Mikeal L. Roose, and Yair Erner. Molecular Genetic Analysis of Citric Acid Accumulation in Citrus Fruit. United States Department of Agriculture, March 2001. http://dx.doi.org/10.32747/2001.7573071.bard.

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The acid content of the juice sac cells is a major determinant of maturity and fruit quality in citrus. Many citrus varieties accumulate acid in concentrations that exceed market desires, reducing grower income and consumer satisfaction. Pulp acidity is thought to be dependent on two mechanisms: the accumulation of citric acid in the vacuoles of the juice sac cells, and acidification of the vacuole. The major aim of the project was to direct effort toward understanding the mechanism of citric acid accumulation in the fruit. The following objectives were suggested: Measure the activity of enzymes likely to be involved in acid accumulation and follow their pattern of expression in developing fruit (Sadka, Erner). Identify and clone genes which are associated with high and low acid phenotypes and with elevated acid level (Roose, Sadka, Erner). Convert RAPD markers that map near a gene that causes low acid phenotype to specific co dominant markers (Roose). Use genetic co segregation to test whether specific gene products are responsible for low acid phenotype (Roose and Sadka). Objective 1 was fully achieved. Most of the enzymes of organic acid metabolism were cloned from lemon pulp. Their expression was studied during fruit development in low and high acid varieties. The activity and expression of citrate synthase, aconitase and NADP-isocitrate dehydrogenase (IDH) were studied in detail. The role that each enzyme plays in acid accumulation and decline was evaluated. As a result, a better understanding of the metabolic changes that contribute to acid accumulation was achieved. It was found that the activity of the mitochondrial aconitase is greatly reduced early in high-acid fruits, but not in acidless ones, suggesting that this enzyme plays an important role in acid accumulation. In addition, it was demonstrated that increases in the cytosolic forms of aconitase and NADP-IDH towards fruit maturation play probably a major role in acid decline. Our studies also demonstrated that the two mechanisms that contribute to fruit acidity, vacuolar acidification and citric acid accumulation, are independent, although they are tightly co-regulated. Additional, we demonstrated that sodium arsenite, which reduce fruit acidity, causes a transient inhibition in the activity of citrate synthase, but an induction in the gene expression. This part of the work has resulted in 4 papers. Objective 3 was also fully achieved. Using bulked segregant analysis, three random amplified polymorphic DNA (RAPD) markers were identified as linked to acitric, a gene controlling the acidless phenotype of pummelo 2240. One of them, which mapped 1.2 cM from acitric was converted into sequence characterized amplified region (SCAR marker, and into co dominant restriction length polymorphism (RFLP) marker. These markers were highly polymorphic among 59 citrus accessions, and therefore, they should be useful for selecting seedling progeny heterozygous for acitric in nearly all crosses between pummelo 2240 and other citrus genotypes. This part of the project resulted in one paper. Objective 4 was also fully achieved. Clones isolated by the Israeli group were sent to the American laboratory for co segregation analysis. However, none of them seemed to co segregate with the low acid phenotype. Both laboratories invested much effort in achieving the goals of Objective 2, namely the isolation of genes that are elevated in expression in low and high acid phenotypes, and in tissue cultures treated with arsenite (a treatment which reduces fruit acidity). However, conventional differential display and restriction fragment differential display analyses could not identify any differentially expressed genes. The isolation of such genes was the major aim of a continuation project, which was recently submitted.
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Cao, Xianling, Xuanyou Zhou, Naixin Xu, Songchang Chang, and Chenming Xu. Association of IL-4 and IL-10 Polymorphisms with Preterm Birth Susceptibility: A Systematic Review and Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, April 2022. http://dx.doi.org/10.37766/inplasy2022.4.0044.

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Review question / Objective: The aim of our systematic review and meta-analysis was to summarize the effects of IL-4 and IL-10 gene polymorphism and clarify their possible association with PTB. Condition being studied: World Health Organization (WHO) defines preterm birth (PTB) as babies born alive before 37 weeks of pregnancy are completed. The new estimates show that the prevalence of PTB during 2014 ranged from 8.7% to13.4% of all live births, about 15 million preterm babies born each year. Besides, PTB is the leading cause of death worldwide for children below 5 years of age. Babies born preterm are at an increased risk of short-term and long-term complications attributed to immaturity of multiple organ systems, such as cerebral palsy, intellectual disabilities, vision and hearing impairments, and impaired cognitive development. PTB has become a worldwide public health problem, but its etiology remains unclear. Accumulating evidence shows that PTB is a syndrome that can be attributed to a variety of pathological processes(5). Inflammatory diseases and genetic background are known risk factors for PTB, many studies had shown that genetic variations in proinflammatory cytokines such as tumor necrosis factor-α (TNF-α) and interleukin-1 α (IL-1 α) are associated with increased risk of PTB, but the relationship between genetic polymorphism in anti-inflammatory cytokines and risk of PTB remains controversial.
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Perl-Treves, Rafael, M. Kyle, and Esra Galun. Development and Application of a Molecular Genetic Map for Melon (Cucumis melo). United States Department of Agriculture, October 1993. http://dx.doi.org/10.32747/1993.7568094.bard.

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This project has generated a systematic survey of DNA polymorphism in Cucumis melo. An RFLP and RAPD survey of the major cultivar groups and botanical varieties of this species has been conducted, with the purpose of assessing the degree of molecular variation and phylogenetic relationships within the melon germplasm and, at the same time, develop sets of markets suitable for mapping the melon genome. Additional activities regarding variation in the melon germplasm in fruit traits and regeneration ability have been initiated as well. The necessary populations required for the development of a molecular map of the C. melo genome have been prepared. An F2 that segregated for 4 viral resistances, powdery mildew resitance and sex type has been derived from a PI 414723 x Topmark cross, and a RILs population has been prepared from it. We have confirmed the resistances in the population and have analyzed the genetic relationships between these resistances. Progress toward the construction of a molecular map of C. melo and the development of markers linked to those traits is described. We have so far screened the first few tens of markers in the F2 population, and many additional ones were screened in DNA bulks prepared from such population.
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