Relevant bibliographies by topics / Genotype

Academic literature on the topic 'Genotype'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 September 2024

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Journal articles on the topic "Genotype"

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Alacam, Sema, Ayfer Bakir, and Aysel Karatas. "Hepatitis C virus genotypes and viremia in a tertiary hospital in Istanbul, Turkey." Journal of Infection in Developing Countries 16, no. 04 (April 30, 2022): 668–74. http://dx.doi.org/10.3855/jidc.15256.

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Introduction: The World Health Organization estimates that 71 million people with chronic HCV infection lived worldwide in 2015. HCV is a globally prevalent pathogen, that genotype1 is the most common. In this study, the prevalence of anti-HCV, distributions of HCV genotype, and viremia rates in patients with chronic hepatitis C were evaluated. Methodology: In this retrospective single-center study, anti-HCV results of 197,081 patients were evaluated between 2017 and 2020. Quantitative HCV-RNA PCR tests were performed on the Rotor-Gene Q real-time PCR instrument. HCV genotypes determination of 546 samples was carried out with the Gen-C 2.0 Reverse Hybridization strip and HCV Genotype Plus Real-TM kit. Results: The prevalence of anti-HCV was 0.95% and viremic HCV infection was 0.3% (610/197,081). HCV viremia rate was 33.17%. HCV viremia rate was highest in 2017 (52.36%) and the lowest in 2020 (18.3%) (p < 0.001). Genotype1 (72%) was the most common genotype, followed by genotype3 (14.1%), and genotype4 (8.8%). The most common subtypes were determined as genotype1b (56.2%) and genotype1a (13.2%). The viral load was higher in patients infected with genotype5. Conclusions: In this study, the rate of viremic HCV infection was found to be 0.3%. This rate was lower than the worldwide rate of HCV viremia. The distribution of HCV genotypes was like the global data. The identification of circulating genotypes and subtypes is essential for epidemiological purposes and remains important in the choice of treatment in patients with chronic HCV.
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Tecle, Tesfaldet, Blenda Böttiger, Claes Örvell, and Bo Johansson. "Characterization of two decades of temporal co-circulation of four mumps virus genotypes in Denmark: identification of a new genotype." Journal of General Virology 82, no. 11 (November 1, 2001): 2675–80. http://dx.doi.org/10.1099/0022-1317-82-11-2675.

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Twenty-nine Danish virus isolates and 14 serum samples from patients with mumps were genotyped by nucleotide sequencing of the small hydrophobic (SH) protein gene and the deduced 57 amino acid sequences were aligned with sequences of mumps virus strains published previously. Four neurovirulent genotypes of the SH protein gene, genotypes C, D, H and a new genotype, designated J, were found. There was a dynamic fluctuation of the different genotypes over the two decade period of time. Genotype J was found from 1981 to 1988; genotypes C and H exhibited a similar distribution in time. Genotype D was found between 1979 and 1982, it then disappeared and reappeared again in 1996. From 1996 onwards, genotype D was found to be the predominant genotype, which is in contrast to the situation seen in the neighbouring country of Sweden, where, since 1985, only genotype A has been found.
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Sami, Hiba, Meher Rizvi, Mohd Azam, Rathindra M. Mukherjee, Indu Shukla, M. R. Ajmal, and Abida Malik. "Emergence of Hepatitis B Virus Genotype F in Aligarh Region of North India." Advances in Virology 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/846849.

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Introduction. HBV genotypes and subtypes are useful clinical and epidemiological markers. In this study prevalent HBV genotypes were assessed in relation to serological profile and clinical status.Material & Methods. 107 cases of HBV were genotyped. Detailed clinical history was elicited from them. HBsAg, HBeAg, anti-HBs, anti-HBe, and anti-HBc-IgM were assessed. HBV genotyping was performed using Kirschberg's type specific primers (TSP-PCR), heminested PCR, and Naito's monoplex PCR. Nucleotide sequencing was performed.Results. A total of 97 (91%) were genotyped following the methods of Kirschberg et al./Naito et al. Genotype D was by far the most prevalent genotype 91 (85.04%) in this region. A surprising finding was the detection of genotype F in 5 (4.67%) of our patients. Genotype A strangely was observed only in one case. In 85.7% genotype D was associated with moderate to severe liver disease, 43.9% HBeAg, and 18.7% anti-HBc-IgM positivity. Majority of genotype F (80%) was seen in mild to moderate liver disease. It was strongly associated with HBeAg 60% and 20% anti-HBc-IgM positivity.Conclusion. Emergence of genotype F in India merits further study regarding its clinical implications and treatment modalities. Knowledge about HBV genotypes can direct a clinician towards more informed management of HBV patients.
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Genç, Serpil, Mediha Uğur, Emel Uzunoğlu Karagöz, and Esin Avcı. "Giresun İli Hepatit C Hastalarında Genotip Dağılımının Araştırılması." Flora the Journal of Infectious Diseases and Clinical Microbiology 25, no. 4 (December 30, 2020): 549–54. http://dx.doi.org/10.5578/flora.69198.

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Introduction: HCV infections are an important public health problem due to their high chronicity, cirrhosis and advanced complications like hepatocellular carcinoma. In HCV infections, it is important and necessary to determine genotypes before treatment because treatment times and protocols vary according to genotypes. The aim of this study was to determine the distribution of HCV genotypes in HCV-RNA positive individuals in Giresun province and to investigate whether there was a statistically significant difference between genotypes and patient ages. Materials and Methods: HCV-RNA level and HCV genotype of 147 patients were included in the study. HCV RNA levels of the samples were studied by QIAsymphony SP (Qiagen) automated device, genotype determination by Rotor Gene Q (Qiagen) automated device by “real-time polymerase chain reaction (PCR)” method. Each sample was tested for HCV genotypes 1a, 1b, 2, 3, 4, 5a and 6. Results: Of the 147 patients genotyped; 128 (87%) genotype 1b, 9 (6%) genotype 1a, 8 (6%) genotype 3, 2 (1%) genotype 2 were detected. Genotypes 4, 5a and 6 were not detected. According to the HCV genotype distribution, median age and range (min.-max.) of the patients weren50 (30-83) for 1a, 70 (22-87) for 1b, 48.5 (36-61) for 2 and 33 (25-52) for 3. HCV RNA levels were between 37 and 12.630.170 IU/mL. Conclusion: The predominant genotype in the world and Turkey is genotype 1b. In our study, the most common genotype was also genotype 1b (87%), consistent with other studies in our country. This study contributed to HCV genotype distribution data in our region and country.
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de Vries, F., H. Hamann, C. Drögemüller, M. Ganter, and O. Distl. "Analysis of associations between the prion protein genotype and reproduction traits in meat sheep breeds." Animal Science 79, no. 3 (December 2004): 397–404. http://dx.doi.org/10.1017/s1357729800090263.

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AbstractThe objective of this study was to analyse the associations between ovine prion protein (PrP) genotypes and reproduction traits in three German meat sheep breeds. Reproduction traits were age at first early lambing, age at first late lambing, first lambing interval, second lambing interval and total number of lambs born. The data set included 595 genotyped German Texel sheep among 5225 recorded sheep, 351 genotyped German Black-Headed Mutton among 10 177 sheep and 282 genotyped Suffolk sheep among 2849 sheep. Linear animal models were employed for the analysis of the PrP-genotype effect. The PrP-genotype effect was analysed by comparing the most frequent PrP genotypes ARR/ARR, ARR/ARQ, and ARQ/ARQ. In a more general analysis three PrP genotype classes of animals with two, one or no copy of the ARR allele were compared.In most cases, no significant associations were found between the PrP genotypes and the reproduction traits investigated. Only for the traits age at first early lambing in German Texel and second lambing interval in German Black-Headed Mutton and Suffolk could a significant association with the PrP genotype be observed.
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Kousar, Khalida, Hayat Ur Rehman, Abida Yasmeen, and Muhammad Fayaz. "HCV Genotypes Distribution among HCV Patients with Biochemical markers in District Mardan." Global Drug Design & Development Review VII, no. III (September 30, 2022): 1–7. http://dx.doi.org/10.31703/gdddr.2022(vii-iii).01.

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Hepatitis C causes chronic liver disease, cirrhosis, and hepatocellular cancer, and its genotypes vary widely among countries. This study aimed to determine HCV patients' genotype distribution and biochemical indicators. Blood samples from enrolled HCV-positive cases were processed and viral RNA was extracted using the "RNA extraction Qiagene kit" to genotype and quantify viral load using Real Time polymerase chain reaction (Rotor Gene Q-PCR equipment).Analysis was performed by SPSS with p-value < 0.05. Results showed that 198 (91.66%) of 216 patients were 3a genotyped and had higher Alanine aminotransferase (ALT; 39-85%). Genotype 3a dominates in Mardan and nearby areas. Infected patients with genotype-3a had a greater pre-treatment HCV viral load than those with genotypes 1a, 1b, and 5a, although other genotypes had higher biochemical markers (P<0.05).
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Schaper, M., A. E. Durán, and J. Jofre. "Comparative Resistance of Phage Isolates of Four Genotypes of F-Specific RNA Bacteriophages to Various Inactivation Processes." Applied and Environmental Microbiology 68, no. 8 (August 2002): 3702–7. http://dx.doi.org/10.1128/aem.68.8.3702-3707.2002.

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ABSTRACT The effect of natural inactivation in freshwater, chlorination, ammonia, extreme pHs, temperature, and salt content on phage inactivation was evaluated on mixtures of F-specific RNA bacteriophage isolates belonging to genotypes I, II, III, and IV. The bacteriophages studied were previously but recently isolated from natural samples, characterized as F-specific RNA bacteriophages and genotyped by plaque hybridization with genotype-specific probes. Natural inactivation in river water was modeled by in situ incubation of bacteriophages inside submerged dialysis tubes. After several days bacteriophages of genotype I showed the highest persistence, which was significantly different from that of bacteriophages of genotype II, IV, or III. The pattern of resistance of phages belonging to the various genotypes to extreme pHs, ammonia, temperature, salt concentration, and chlorination was similar. In all cases, phages of genotype I showed the highest persistence, followed by the phages of genotypes II, III, and IV. The phages of genotypes III and IV were the least resistant to all treatments, and resistance of genotypes III and IV to the treatments was similar. Bacteriophages of genotype II showed intermediate resistance to some of the treatments. The resistance of four phages of genotype I to natural inactivation and chlorination did not differ significantly. These results indicate that genotypes III and IV are much more sensitive to environmental stresses and to treatments than the other genotypes, especially than genotype I. This should be taken into consideration in future studies aimed at using genotypes of F-specific RNA bacteriophages to fingerprint the origin of fecal pollution.
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Rahmiati, Tengku Mia, Yohanes Aris Purwanto, Slamet Budijanto, and Nurul Khumaida. "Sifat Fisikokimia Tepung dari 10 Genotipe Ubi Kayu (Manihot esculenta Crantz) Hasil Pemuliaan (Physicochemical Properties of Cassava Flour (Manihot esculenta Crantz) of 10 Breeding Genotipes)." Agritech 36, no. 4 (February 25, 2017): 459. http://dx.doi.org/10.22146/agritech.16771.

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The objectives of this study were to characterize and evaluate the physicochemical properties of 10 cassava breeding genotypes developed by cassava crop improvement of (Institut Pertanian Bogor) IPB research group. The physicochemical characterization was performed by measuring water content, ash, protein, fat, carbohydrate, pasta (pasting properties), starch total, amylose content, and whiteness. The results showed that each genotype has different chemical content and gelatinization properties. The highest water content (11.48 ± 0.12 %) was found in genotype V4D0 (variant genotype Malang 4), ash (1.83 ± 0.02 %) in V5D2 (1) (A variant of genotype Malang 4-1), fat (1.62 ± 0.93 %) and protein (4.73 ± 0.19 %) in V3D1 (1) (variant UJ 5-1). Genotype V1D1-1(1) (A variant of genotype Ratim-1) has the highest amylose (23.33 ± 0.04 %) and the lowest ones (13.13 ± 0.48 %) was found in genotype V2D1-1(3). Genotype V2D0 has the highest total starch (88.67 %) and the lowest (74.3%) was obtained in V5D2 (1). The highest whiteness value was measured in genotype V1D0 i.e. 93.13 %. For pasting properties testing, it was measured that genotype V2D1-1 (3) had the lowest peak viscosity i.e 4,006 cP and the high of end of viscosity occurred 2,592 cP in genotype V4D2-1 (2) (A variant of genotype Adira 4-1), were correlated with high amylose content owned flour is 22.03 ± 0.25%. ABSTRAKPenelitian ini bertujuan untuk mengkarakterisasi dan mengevaluasi sifat fisikokimia 10 genotipe ubi kayu hasil pemuliaan team crop improvement ubi kayu Institut Pertanian Bogor (IPB). Karakterisasi fisikokimia dilakukan dengan cara melakukan analisis kadar air, abu, protein, lemak, karbohidrat, pasta (pasting properties), total pati, kadar amilosa, dan derajat putih. Dari hasil karakterisasi diperoleh bahwa setiap genotipe ubi kayu memiliki kandungan kimia dan sifat gelatinisasi yang berbeda-beda. Kadar air tertinggi dimiliki genotipe V4D0 (Genotipe Malang 4) 11,48 ± 0,12 % , kadar abu dan lemak tertinggi adalah genotipe (V5D2 (1) (Varian dari genotipe Malang 4-1) yaitu 1,83 % ± 0,02 dan 1,62 ± 0,93 % serta kadar protein tertinggi adalah V3D1 (1) (Varian UJ 5-1) 4,73 ± 0,19 %. Genotipe V1D1-1 (1) (Varian dari genotipe Jame-1) memiliki kadar amilosa tertinggi yaitu 23,33 ± 0,04 % sedangkan yang terendah dihasilkan oleh genotipe V2D1-1 (3) (Varian dari genotipe Ratim-1) yaitu 13,13 ± 0,48 %. Genotipe V2D1-1 (3) (Varian genotipe Ratim-1) memiliki viskositas puncak terendah yaitu 4.006 cP berkorelasi positif dengan kandungan amilosa paling rendah yang dimilikinya. Viskositas akhir yang tinggi terjadi pada genotipe V4D2-1(2) (Varian genotipe Adira 4-1) yaitu 2.592 cP yang berkorelasi dengan tingginya kandungan amilosa yang dimiliki tepung tersebut yaitu 22,03 ± 0,25 %.
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Unzhakova, Anastasiia, Nikolai Kochnev, and Galina Goncharenko. "Association of κ-casein, β-lactoglobulin, α-lactalbumin and leptin gene polymorphisms with bovine productivity traits in Western Siberia." E3S Web of Conferences 273 (2021): 02021. http://dx.doi.org/10.1051/e3sconf/202127302021.

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The Simmental breed (n=182) and Siberian breed (n=131) cows were genotyped using the CSN3, BLG, LALBA, and LEP genes. In both populations, the frequency of homozygotes did not exceed 10 %, and the proportion of heterozygotes was at the level of 40-45%. The actual genotype distribution corresponded to the theoretically expected Hardy-Weinberg distribution. In terms of milk yield, cows of the «Sibiryachka» breed with the BLGAA genotype significantly outperformed cows with the BLGBB genotype (p<0.05), and in the Simmental breed, cows with the BLGAA genotype had a higher milk yield than BLGAB (p<0.01). According to the LALBA gene in the Simmental breed, cows with the LALBABB genotype were superior to cows with LALBAAA in fat content (p<0.05), in the «Sibiryachka» breed, higher fat content was observed in cows with the LALBAAB genotype (p<0.05). In both breeds, cows with the LEPCC genotype outperformed cows with the LEPTT genotype in fat content (p<0.05). According to the reproduction indicators, cows with the LALBAAA and LEPCT genotypes had an earlier age of insemination in comparison with cows with the LALBABB and LEPCC genotypes (p<0.05). Cows with the LEPCT genotype had a longer calving interval than cows with the LEPCC genotype (p<0.05).
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Ezward, Chairil, Desta Andriani, A. Haitami, Risdianas Risdianas, Ilham Yaumil Pitra, Delfi Dwi Ningsi, and Tri Nur Utami. "Genotipe Padi Lokal (Oryza sativa L.) Kuantan Singingi Toleran Cekaman Kekeringan." Jurnal AGROSAINS dan TEKNOLOGI 8, no. 2 (December 22, 2023): 54. http://dx.doi.org/10.24853/jat.8.2.54-60.

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Kekeringan memiliki dampak luas terhadap pertanian, seperti penurunan produktivitas dan produksi. Upaya mengatasi permasalahan ini salah satunya yaitu dengan menggunakan bahan tanam (benih) genotipe padi lokal. Genotipe padi lokal telah beradaptasi dengan lingkungan setempat yang spesifik, sehingga memiliki kemampuan beradaptasi pada kondisi cekaman kekeringan. Penelitian ini bertujuan untuk mengetahui genotipe yang toleran terhadap cekaman kekeringan, dengan menggunakan metode eksperimen yaitu dengan sengaja memberikan perlakuan kekeringan pada pot wadah penelitian pada fase pertumbuhan (vegetatif). Cekaman kekeringan diberikan mulai umur tanaman 57 hst sampai 73 hst (selama 16 hari). Selama kondisi cekaman kekeringan muncul gejala daun menggulung dan daun mengering. Hal ini menjadi acuan dalam menentukan tanaman toleran dan peka. Pengamatan fase pertumbuhan tanaman dilakukan pada 4 genotipe padi lokal asal Kabupaten Kuantan Singingi (A = Sironda Putih, B = Saronda Merah, C = Pandan Wangi dan D = Ronda Putiah) ditambah 1 varietas kontrol toleran kekeringan (Inpago 9). Pengamatan dilakukan secara visual pada morfologi daun berdasarkan buku IRRI edisi tahun 1996. Hasil penelitian diperoleh genotipe yang memiliki kriteria toleran cekaman kekeringan yaitu genotipe Sironda Putih, kriteria agak toleran genotipe Saronda Merah, kriteria agak peka yaitu genotipe Pandan Wangi dan kriteria sangat peka genotipe Ronda Putiah. Genotipe Ronda Putiah dapat digunakan sebagai bahan budidaya pada lahan sawah tadah hujan.ABSTRACTDrought has a broad impact on agriculture, such as reducing productivity and production. One way to overcome this problem is by using planting material (seed) of local rice genotypes. Local rice genotypes have adapted to specific local environments, so they have the ability to adapt to drought stress conditions. This research aims to determine genotypes that are tolerant to drought stress, using an experimental method, namely deliberately providing drought treatment to research pots in the growth (vegetative) phase. Drought stress is given from 57 days after planting to 73 days after planting (for 16 days). During drought stress conditions, symptoms of leaf curling and drying of the leaves appear. This becomes a reference in determining tolerant and sensitive plants. Plant growth phase observations were carried out on 4 local rice genotypes from Kuantan Singingi Regency (A = Sironda Putih, B = Saronda Merah, C = Pandan Wangi and D = Ronda Putiah) plus 1 drought tolerant control variety (Inpago 9). Observations were made visually on leaf morphology based on the 1996 edition of the IRRI book. The results of the research obtained genotypes that had drought stress tolerance criteria, namely the White Sironda genotype, moderately tolerant criteria for the Red Saronda genotype, slightly sensitive criteria for the Pandan Wangi genotype and very sensitive criteria for the Ronda Putiah genotype. . The Ronda Putiah genotype can be used as cultivation material in rainfed rice fields.
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Dissertations / Theses on the topic "Genotype"

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Hulmel, Maryse. "Expliquer l'interaction genotype*milieu par des genotypes revelateurs chez le ble tendre d'hiver." Rennes, Agrocampus Ouest, 1999. http://www.theses.fr/1999NSARB113.

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L'interaction genotype*milieu observee sur le rendement a ete expliquee sur un reseau multilocal de ble tendre d'hiver a l'aide de genotypes revelateurs. Ces genotypes, revelateurs de facteurs limitants du milieu, sont specifiquement choisis sur la base de leur comportement particulier vis a vis d'un ou plusieurs facteurs du milieu. Le corps principal de la these se compose de quatre articles. Le principal resultat de la revue bibliographique reside dans la comparaison de trois modelisations statistiques, regression conjointe, modele ammi et regression factorielle, a l'aide d'exemples issus de nombreuses especes. Cet article a permis de mettre en evidence que peu de demarches sont a la fois d'ordre statistique et agro-physiologique, d'ou l'interet de la these. Le deuxieme article est consacre a la caracterisation des milieux a l'aide de quatre genotypes revelateurs. Deux variables synthetiques ont ete analysees : la deviation du nombre de grains par rapport a une valeur de reference, qui permet de porter un diagnostic sur ce qui s'est passe jusqu'a la floraison, et la reduction du poids de mille grains a une valeur de reference, qui permet de juger des conditions de remplissage. Les valeurs de reference ont ete determinees a partir de courbes enveloppes. Les derniers articles ont aborde l'analyse de l'interaction observee sur douze varietes ou les covariables du milieu, indicateurs usuels de facteurs limitants du rendement tels les indicateurs physiques ou biologiques, ou les deviations de composantes mesurees sur les genotypes revelateurs, ont ete integrees dans des modeles de regressions factorielles lineaire et bilineaire. En outre, des resultats et des discussions ont complete les articles initiaux.
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Roshyara, Nab Raj, Katrin Horn, Holger Kirsten, Peter Ahnert, and Markus Scholz. "Comparing performance of modern genotype imputation methods in different ethnicities." Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-213865.

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A variety of modern software packages are available for genotype imputation relying on advanced concepts such as pre-phasing of the target dataset or utilization of admixed reference panels. In this study, we performed a comprehensive evaluation of the accuracy of modern imputation methods on the basis of the publicly available POPRES samples. Good quality genotypes were masked and re-imputed by different imputation frameworks: namely MaCH, IMPUTE2, MaCH-Minimac, SHAPEIT-IMPUTE2 and MaCH-Admix. Results were compared to evaluate the relative merit of pre-phasing and the usage of admixed references. We showed that the pre-phasing framework SHAPEIT-IMPUTE2 can overestimate the certainty of genotype distributions resulting in the lowest percentage of correctly imputed genotypes in our case. MaCH-Minimac performed better than SHAPEIT-IMPUTE2. Pre-phasing always reduced imputation accuracy. IMPUTE2 and MaCH-Admix, both relying on admixed-reference panels, showed comparable results. MaCH showed superior results if well-matched references were available (Nei’s GST ≤ 0.010). For small to medium datasets, frameworks using genetically closest reference panel are recommended if the genetic distance between target and reference data set is small. Our results are valid for small to medium data sets. As shown on a larger data set of population based German samples, the disadvantage of pre-phasing decreases for larger sample sizes.
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Yadav, Kush Kumar. "Genotype 1 hepatitis E virus (HEV) ORF4 protein enhances genotype 3 HEV replication." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1574781581580768.

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Alowairdhi, Mohammad Abdullah. "The Cost-Effectiveness of Treatments in Non-Cirrhotic Saudi Arabian Patients with Genotype 1 and Genotype 4 Chronic Hepatitis C." University of Toledo Health Science Campus / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=mco1492801732185855.

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Pontius, Sarah E. "Genotype-Phenotype: Investigations in Typology." Cincinnati, Ohio : University of Cincinnati, 2007. http://www.ohiolink.edu/etd/view.cgi?acc%5Fnum=ucin1179414436.

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Thesis (Master of Architecture)--University of Cincinnati, 2007.
Title from electronic theses title page (viewed July 16, 2007). Includes abstract. Keywords: architecture; typology; therapeutic; riding stable Includes bibliographic references.
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Cheong, Pak Leng. "Genotype-Phenotype Correlations in Porphyria." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/13647.

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The porphyrias are a group of disorder resulting from defects in the haem biosynthesis pathway. The majority of defects are genetic in origin. The clinical penetrance of porphyria is variable and cannot be explained by environmental factors alone. It is therefore likely that genetic modifiers are present to influence the phenotypic outcome of the disease. In the first part of this study, variants in ABCB6, a member of the ATP-Binding Cassette transporter, were detected in a high proportion (62.5%) of severely affected porphyria patients. In vitro functional studies revealed that these ABCB6 variants either affect dimer formation (p.Arg276Trp, p.Thr521Ser, p.Gly588Ser and p.Ala681Thr), or has decreased ATPase activity (p.Ala492Thr). In a double knock out mouse model deficiency in Fech (Fechm1Pas) and Abcb6 showed a more severe phenotype compared to Fechm1Pas-only mice. The results support that ABCB6 acts as a genetic modifier for porphyria patients. In the second part of this study, detailed study on a patient with fatal liver failure secondary to erythropoietic protoporphyria (EPP) revealed an atypical low expression FECH allele and a maternally inherited FECH p.Phe260Leu mutation giving rise to the EPP. Exome sequencing of this EPP patient and her parents revealed multiple functional variants and a novel 0.79Mb duplication, all involving genes in the bile secretion pathway. These variants affect both the basolateral re-uptake and canalicular secretion of bile acids as well as their constitution. In EPP, the excessive haem intermediate protoporphyrin IX is excreted in bile. The results here suggest that genetic variants in the bile secretion pathway may contribute to the risk of liver failure in EPP patients.
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Agut, Busquet Eugènia. "Caracterització fenotípica dels pacients amb hidrosadenitis supurativa." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/671584.

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Introducció. La hidrosadenitis supurativa (HS) és una malaltia crònica, inflamatòria de la unitat pilosebàcia. Es caracteritza per la formació de nòduls, abscessos i fístules en zones riques en glàndules apocrines. L’etiopatogènia és multifactorial i es relaciona amb múltiples comorbiditats. L’expressió clínica és diferent interindividualment i intraindividualment a mesura que la malaltia progressa. S’ha proposat que diverses vies patogèniques serien les responsables de l’expressió fenotípica variada i s’han descrit algunes classificacions fenotípiques basades en dades clíniques i epidemiològiques. Objectius. L’objectiu principal fou classificar als pacients de la nostre cohort en dos clústers que es poden interpretar com a endotips de la malatia. Els objectius secundaris foren: determinar si els pacients amb afectació del clatell i les pacients amb afectació de la vulva pertanyien a un fenotip atípic; descriure el subgrup de pacients amb Malaltia de Dowling-Degos (MDD) i HS i, per últim, analitzar el perfil antropomètric d’un grup de malalts amb HS en comparació als malalts amb psoriasi i a un grup control. Material i mètodes. S’analitzà la cohort de pacients tractats a les consultes monogràfiques de HS. Per a l’estudi de la MDD també s’inclogueren pacients de l’Hospital General de Alicante. Les dades que es recolliren dels pacients foren els antecedents familiars, personals i epidemiològics; les característiques clíniques; les mesures antropomètriques i els tractaments. En 103 pacients, també s’analitzaren paràmetres analítics (hemograma, vitamina D, insulina, HLA B27, proteïnograma, funció hepàtica i renal), inflamatoris (VSG, PCR, interleuquines 10,1,6 i 17) i mutacions de la via gamma secretasa (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, PSENEN, PSTPIP1). Resultats. S’obtingueren dos grups. El grup (C1) o atípic estava format per pacients no obesos, la majoria homes, amb un debut precoç, alteracions de la via gamma secretasa, increment de IL-10 i lesions en la part posterior del tronc tipus acne conglobata i fol·liculitis cicatricial. El segon grup (C2) es caracteritzava per incloure pacients obesos, amb un debut més tardà, amb un increment de la PCR, ILs-1, 6 i 17; per la formació d’abscessos i de lesions en la part anterior del cos. El subgrup de pacients amb afectació del clatell es podia incloure dins el C1, ja que presentaven més gravetat i la majoria eren homes prims. Les malaltes amb afectació de la vulva, també presentaven un fenotip atípic amb predomini de lesions fol·liculars i cicatricials, un IMC inferior, una major gravetat, però excepcionalment un debut més tardà. D’altra banda, els pacients afectes de MDD presentaven un debut més precoç i un patró clínic compatible amb el grup C1, però per contra, un 53% dels malalts tenien sobrepès i pràcticament de forma constant lesions axil·lars i engonals (característic del grup C2). Quan es comparava l’IMC i el percentatge de greix corporal entre pacients amb HS, psoriasi i un grup control, s’observa que el percentatge de greix corporal era superior en els pacients amb HS en comparació al grup control (P=0,02), però no s’observarà cap relació amb la gravetat. En fases inicials de la malaltia, el pilar terapèutic dels pacients del grup C1 serien els fàrmacs amb acció sobre la unitat fol·licular (acitretina, gluconat de zinc, sulfona, colquicina, antiandrògens), mentre que als del grup C2, serien els antibiòtics. Conclusions. Existeixen dos clústers interpretables com a endotips: el C2 o típic i el C1 o atípic, on s’inclouen els malalts amb afectació del clatell, la vulva i els malalts amb MDD. No hi ha cap tractament curatiu per se i els equips multidisciplinars per al maneig integratiu del malalt són indispensables.
Introducción. La hidrosadenitis supurativa (HS) es una enfermedad crónica, inflamatoria de la unidad pilosebácea. Se caracteriza por la formación de nódulos, abscesos y fístulas en zonas ricas en glándulas apocrinas. La etiopatogenia es multifactorial y se relaciona con múltiples comorbilidades. La expresión clínica es diferente interindividualmente y intraindividualment a medida que la enfermedad progresa. Se ha propuesto que diversas vías patogénicas serían las responsables de la expresión fenotípica variada y se han descrito algunas clasificaciones fenotípicas basadas en datos clínicos y epidemiológicos. Objetivos. El objetivo principal fue clasificar a los pacientes de nuestra cohorte en dos clústeres que se pueden interpretar como endotipos de la enfermedad. Los objetivos secundarios fueron: determinar si los pacientes con afectación de la nuca y las pacientes con afectación de la vulva pertenecían a un fenotipo atípico; describir el subgrupo de pacientes con Enfermedad de Dowling-Degos (MDD) y HS y, por último, analizar el perfil antropométrico de un grupo de enfermos con HS en comparación a los enfermos con psoriasis y a un grupo control. Material y métodos. Se analizó la cohorte de pacientes tratados en las consultas monográficas de HS. Para el estudio de la MDD también se incluyeron pacientes del Hospital General de Alicante. Los datos que se recogieron de los pacientes fueron los antecedentes familiares, personales y epidemiológicos; las características clínicas; las medidas antropométricas y los tratamientos. En 103 pacientes, también se analizaron parámetros analíticos (hemograma, vitamina D, insulina, HLA B27, proteinograma, función hepática y renal), inflamatorios (VSG, PCR, interleucinas 10,1,6 y 17) y mutaciones de la vía gama secretasa (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, psenes, PSTPIP1). Resultados. Se obtuvieron dos grupos. El grupo (C1) o atípico estaba formado por pacientes no obesos, la mayoría hombres, con un debut precoz, alteraciones de la vía gama secretasa, incremento de IL-10 y lesiones en la parte posterior del tronco tipo acné conglobata y foliculitis cicatricial. El segundo grupo (C2) se caracterizaba por incluir pacientes obesos, con un debut más tardío, con un incremento de la PCR, ILs-1, 6 y 17; por la formación de abscesos y de lesiones en la parte anterior del cuerpo. El subgrupo de pacientes con afectación de la nuca se podía incluir en el C1, ya que presentaban mayor gravedad y la mayoría eran hombres delgados. Las enfermas con afectación de la vulva, también presentaban un fenotipo atípico con predominio de lesiones foliculares y cicatriciales, un IMC inferior, una mayor gravedad, pero excepcionalmente un debut más tardío. Por otra parte, los pacientes afectos de MDD presentaban un debut más precoz y un patrón clínico compatible con el grupo C1, pero por el contrario, un 53% de los enfermos tenían sobrepeso y prácticamente de forma constante lesiones axilares e ingles (característico del grupo C2). Cuando se comparaba el IMC y el porcentaje de grasa corporal entre pacientes con HS, psoriasis y un grupo control, se observa que el porcentaje de grasa corporal era superior en los pacientes con HS en comparación al grupo control (P = 0,02 ), pero no se observará ninguna relación con la gravedad. En fases iniciales de la enfermedad, el pilar terapéutico de los pacientes del grupo C1 serían los fármacos con acción sobre la unidad folicular (acitretina, gluconato de zinc, sulfona, colchicina, antiandrógenos), mientras que los del grupo C2, serían los antibióticos . Conclusiones. Existen dos clústeres interpretables como endotipos: el C2 o típico y el C1 o atípico, donde se incluyen los enfermos con afectación de la nuca, la vulva y los enfermos con MDD. No hay ningún tratamiento curativo para y los equipos multidisciplinares para el manejo integral del enfermo son indispensables.
Introduction. Hidrosadenitis suppurativa (HS) is a chronic, inflammatory disease of the pilosebaceous unit. It is characterized by the formation of nodules, abscesses and fistulas in areas rich in apocrine glands. The etiopathogenesis is multifactorial and is related to multiple comorbidities. Clinical expression differs interindividually and intraindividually as the disease progresses. It has been proposed that several pathogenic pathways would be responsible for the varied phenotypic expression. Some phenotypic classifications based on clinical and epidemiological data have been described. Objectives. The main objective was to classify the patients in our cohort into two clústers that could be regarded as endotypes. The secondary endpoints were: to determine whether patients with cervical involvement and patients with vulvar involvement belonged to an atypical phenotype of the disease; describe the subgroup of patients with Dowling-Degos Disease (MDD) and for last, to analyze the anthropometric profile of a group of patients with HS compared to patients with psoriasis and a control group. Material and methods. The cohort of patients treated in the monographic consultations of HS was analyzed. For the study of MDD, five patients from the General Hospital of Alicante were also gathered. The data collected from patients were: family, personal and epidemiological history; clinical features; anthropometric measurements and treatments. In 103 patients, analytical parameters (hemogram, vitamin D, insulin, HLA B27, proteinogram, liver and kidney function), inflammatory (ESR, PCR, interleukins 10, 1, 6, and 17), and mutations in the gamma secretase pathway were also analyzed (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, PSENEN, PSTPIP1). Results. Two groups were obtained. The group (C1) or atypical was made up of non-obese patients, mostly men, with an early onset, alterations of the gamma secretase pathway, increased IL-10 and lesions in the back of the trunk like acne conglobata and cicatricial follyculitis. The second group (C2) was characterized by including obese patients, with a later onset, with an increase in PCR, ILs-1, 6, and 17 and by the formation of abscesses and lesions in the anterior part of the body. The subgroup of patients with neck involvement could be included within C1, as they presented more severity and most were thin men. Patients with vulvar involvement also had an atypical phenotype with a predominance of follicular and scarring lesions, a lower BMI, a higher severity, but exceptionally a later onset. In contrast, patients with MDD had an earlier onset and a clinical pattern compatible with the C1 group, but in contrast, 53% of them were overweight and most of them had either axillary or inguinal involvement (typical of C2). When comparing BMI and body fat percentage between patients with HS, psoriasis and a control group, it was observed that the percentage of body fat was higher in patients with HS compared to the control group (P = 0.02), but no relation to severity. In the early stages of the disease, the mainstay of treatment for patients in group C1 are those drugs that act on the follicular unit (acitretin, zinc gluconate, sulfone, colchicine, antiandrogens), while for those patients in group C2, antibiotics. Conclusions. There are two clústers/endotypes: C2 or typical and C1 or atypical, which includes patients with neck, vulva and MDD involvement. There is no curative treatment per se and multidisciplinary teams that carry out an integrative patient management are mandatory.
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Habib, Farhat Abbas. "Genotype-phenotype correlation using phylogenetic trees." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187297400.

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Burke, Georgina. "Genotype - phenotype correlations in congenital myasthenia." Thesis, University of Oxford, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437178.

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Ghasimi, Soma. "Genotype-phenotype studies in brain tumors." Doctoral thesis, Umeå universitet, Onkologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-83185.

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Meningioma and glioma are the most common primary brain tumors, but their etiologies are largely unknown. Although meningioma is usually benign, their intracranial location can lead to lethal consequences, and despite progress in surgery, radiotherapy, and chemotherapy the prognosis for patients with glioma remains poor. The only well-established environmental risk factor for meningioma and glioma is ionizing radiation. Evidence for inherited predisposition to meningioma and glioma is provided by a number of rare inherited syndromes where collectively these diseases account for only a small proportion of the twofold increased risk of brain tumors seen in first-degree relatives for meningioma and glioma patients. It is very possible that much of the excess familial risk is a consequence of co-inheritance of multiple low-risk genetic variations. With this in mind, the aims of the studies in this thesis were to discover genetic risk variants influencing the probability of acquiring the disease and to identify the association between risk variants on the tumor phenotype. To identify genetic variants influencing meningioma risk, a comprehensive tagging of the selected genes in a case-control study was performed. We identified nine risk variants in EGF, ERBB2, and LRIG2 genes. However, these findings could not be confirmed in another larger independent dataset. In addition, the study identified a correlation between LRIG2 protein expression and ER status when analyzed with different parameters. In a separate study with a larger sample of meningioma patients, the same correlation between LRIG2 and ER status was observed. To explore the potential association between reported germline risk variants and somatic genetic events, matched tumor and blood samples from glioma patients were analyzed by SNP array. The results identified correlations between EGFR gene variants and somatic aberrations within the EGFR locus and CDKN2A/B locus. To further study the relationship between germline risk variants and tumor phenotype, the same patient material was used and analyzed by three different techniques: SNP array, IHC, and FISH. The results revealed EGFR risk variants effecting copy number variation of the EGFR gene and the expression of the IDH1 and p53. Further comparison between different techniques such as SNP array and FISH analysis revealed the difficulty in achieving consistent results with different techniques. To summarize, the glioma studies show a link between genotype and phenotype where genetic risk variants in the EGFR gene were found to be associated with specific somatic aberrations. These associations are biologically interesting because EGFR is involved in multiple cellular processes. Additional studies of the direct functional role of these observations need to be conducted to elucidate the molecular mechanisms underlying the identified association between germline gene variants and somatic aberrations. For the meningioma studies, no significant risk variants influencing the disease were found but a correlation between LRIG2 and ER status was observed. This result suggests a potential role for the LRIG protein in the pathogenesis of meningioma, but more studies are needed to confirm this hypothesizes.

Cancer research foundation in northern Sweden and Lions cancer research foundation at Umeå university

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Books on the topic "Genotype"

1

Zielonka, Stefan, and Simon Krah, eds. Genotype Phenotype Coupling. New York, NY: Springer US, 2020. http://dx.doi.org/10.1007/978-1-4939-9853-1.

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D'Adamo, Peter. The genotype diet. New York: Broadway Books, 2007.

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Zielonka, Stefan, and Simon Krah, eds. Genotype Phenotype Coupling. New York, NY: Springer US, 2023. http://dx.doi.org/10.1007/978-1-0716-3279-6.

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Sue, Malcolm, and Goodship Timothy H. J, eds. Genotype to phenotype. 2nd ed. Oxford: BIOS Scientific, 2001.

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S, Kang Manjit, and Gauch Hugh G. 1942-, eds. Genotype -by- environment interaction. Boca Raton: CRC Press, 1996.

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K, Campbell R., Eikenbary Raymond D, and International Congress of Entomology (18th : 1988 : Vancouver, B.C.), eds. Aphid-plant genotype interactions. Amsterdam, Netherlands: Elsevier, 1990.

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Roche, Karen. Genotype Detection In Environmental Samples. Dublin: University College Dublin, 1998.

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Hunt, John, and David Hosken, eds. Genotype-by-Environment Interactions and Sexual Selection. Chichester, UK: John Wiley & Sons, Ltd, 2014. http://dx.doi.org/10.1002/9781118912591.

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Pontarotti, Pierre, ed. Evolutionary Biology: Biodiversification from Genotype to Phenotype. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19932-0.

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Cummings, Jeffrey L., Michel Poncet, John Hardy, and Yves Christen, eds. Genotype — Proteotype — Phenotype Relationships in Neurodegenerative Diseases. Berlin, Heidelberg: Springer Berlin Heidelberg, 2005. http://dx.doi.org/10.1007/b137738.

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Book chapters on the topic "Genotype"

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Hahn, Martin, and Rohan Palmer. "Genotype." In Encyclopedia of Clinical Neuropsychology, 1555. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-57111-9_1859.

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Hahn, Martin, and Rohan Palmer. "Genotype." In Encyclopedia of Clinical Neuropsychology, 1141. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-0-387-79948-3_1859.

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Peck, Stewart B., Carol C. Mapes, Netta Dorchin, John B. Heppner, Eileen A. Buss, Gustavo Moya-Raygoza, Marjorie A. Hoy, et al. "Genotype." In Encyclopedia of Entomology, 1606. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6359-6_1070.

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Galik, Elizabeth, Shin Fukudo, Yukari Tanaka, Yori Gidron, Tavis S. Campbell, Jillian A. Johnson, Kristin A. Zernicke, et al. "Genotype." In Encyclopedia of Behavioral Medicine, 855–56. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_698.

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Nahler, Gerhard. "genotype." In Dictionary of Pharmaceutical Medicine, 80. Vienna: Springer Vienna, 2009. http://dx.doi.org/10.1007/978-3-211-89836-9_603.

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Hahn, Martin, and Rohan Palmer. "Genotype." In Encyclopedia of Clinical Neuropsychology, 1. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56782-2_1859-2.

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Manrubia, Susanna. "Genotype." In Encyclopedia of Astrobiology, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-27833-4_636-3.

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Manrubia, Susanna. "Genotype." In Encyclopedia of Astrobiology, 946–47. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-662-44185-5_636.

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Tsui, Nancy B. Y., and Johnson Y. N. Lau. "Genotype." In Encyclopedia of Gerontology and Population Aging, 1–5. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-69892-2_936-1.

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Mehlhorn, Heinz. "Genotype." In Encyclopedia of Parasitology, 1113. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-43978-4_3906.

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Conference papers on the topic "Genotype"

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S. MADAB, Dawood, and Suaad M. HASSEN. "ESTIMATION GENOTYPIC ENVIRONMENTAL INTERACTION BY USING GGE BIPLOT ANALYSIS OF COTTON GENOTYPES (GOSSYPIUM HERSUTUM L.)." In VI.International Scientific Congress of Pure,Applied and Technological Sciences. Rimar Academy, 2022. http://dx.doi.org/10.47832/minarcongress6-38.

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Seven cotton genotypes were grown in a different environmental conditions (as a combination among plant densities: 15, 20, and 25 cm under salt and non salt stress irrigation) to estimate genetic behavior in different environments of cotton genotypes (Ceebro, W888, Pac-cot189, Lashata, Cocker310, Montana, and Ik259).Analysis of variance for the interaction environments with the genotypes according to Randomized Completely Block Design with three replications were used, furthermore GGE biplot analysis for the seed cotton yield. Results Showed : Environments affected high significant in seed cotton yield for studied genotypes. Genotypic and genotypic environmental interaction contribute of 14.7 and 32.2% of variation respectively. PC1 and PC2 interpreted 53.9 and 26.5 % respectively of differences in GGE variances.IK259 Genotype the most productive and stable than others for high PC1 and low absolute value of PC2.E6 environment correlated significant and positive with other environments that means the effect of salt water stress in a wide distance among plants (25cm). Better performance of IK259 genotype was under un salt stress conditions in narrow distances among plants(15 cm). While Pac-cot genotype was favorable in most salt stress conditions. Consequently IK259 and Pac-cot189 genotypes are productive and desirable in studied environments.
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Lukovic, Kristina, Veselinka Zečevic, Vladimir Perišic, Milivoje Milovanovic, Kamenko Bratkovic, and Vera Rajicic. "STABILNOST PRINOSA ZRNA LINIJA PŠENICE CENTRA ZA STRNA ŽITA KRAGUJEVAC." In SAVETOVANJE o biotehnologiji sa međunarodnim učešćem. University of Kragujeva, Faculty of Agronomy, 2021. http://dx.doi.org/10.46793/sbt26.067l.

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In these investigations, the yield stability of 14 winter bread wheat genotypes were analyzed. The experimental part of the trial was performed at three locations (Kragujevac, Kruševac and Sombor) during 2013/2014. AMMI analysis of variance for grain yield showed that all sources of variation (genotype, environment, their interaction) had a significant effect on the expression of this complex trait. In the total variation of the experiment, the largest contribution had genotype/enviroment interaction, and genotype had the least. The most stable genotypes have been identified, which can be considered as a desirable genotypes, widely adapted to different agroecological conditions.
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Ladyka, Volodymyr, Yuriy Skliarenko, Yuliia Pavlenko, and Alona Malikova. "Study of beta-casein gene polymorphism in dairy cattle populations of Ukraine." In Scientific and practical conference with international participation: "Management of the genetic fund of animals – problems, solutions, outlooks". Scientific Practical Institute of Biotechnologies in Animal Husbandry and Veterinary Medicine, 2023. http://dx.doi.org/10.61562/mgfa2023.20.

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Using real-time polymerase chain reaction methods, we have researched the CSN2 polymorphism gene in 2 populations of cows in the North-East of Ukraine. The observed distributions of genotype frequencies А1А1, А1А2, А2А2 and A1 or A2 alleles varies considerably in different cattle populations of cows: population of brown cattle – 1.7%, 38.5, 59.8% (0.209 and 0.791); black and spotted population – 18.3%, 44.7%, 37.0% (0.406 and 0.594). The ratio of genotypes were found significant differences when comparing genotypes A1A1 (p<0.001) and A2A2 (p<0.001). The results of DNA testing of the beta-casein locus for A1 and A2-allelic variants in stud bulls of the studied populations have shown that the highest frequency of the A2A2 desired homozygous genotype is characteristic of the breeders of brown cattle (46%). The obtained results indicate the prospects of breeding work to create herds with genotype A2A2 animals - specifically with the brown cattle.
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Saltanovici, Tatiana, Larisa Andronic, Ludmila Antoci, and Ana Buldumac. "Impactul infecțiilor virale asupra activității gametofitului masculin de tomate." In Scientific International Symposium "Plant Protection – Achievements and Perspectives". Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2023. http://dx.doi.org/10.53040/ppap2023.57.

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Reinfection of tomato genotypes with tobacco mosaic virus or tomato aspermia virus results in a change of plant pollen productivity and male gametophyte activity. Under the influence of infection, the specificity of the genotype response for a number of functional traits of the male gametophyte was revealed. Under conditions of primary infection and reinfection, the genotype was a determining factor in the variability of pollen viability, while the change in the size of pollen tubes was mainly determined by the appearance of viruses. As a result of the experiments, two varieties Venets and Rufina were selected for further research, combining a high level of pollen viability and productivity. They testify to a high reproductive capacity of varieties; the combination of these indicators can be used as a tool for the selection of valuable genotypes.
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Baboshko, D. A., A. I. Kuzmin, O. A. Rozhkov, A. V. Totmenin, M. V. Fleer, and N. M. Gashnikova. "COMPARATIVE ANALYSIS OF THE MAIN BOVINE LEUKEMIA VIRUS GENOVARIANTS BASED ON WHOLE GENOME SEQUENCES." In X Международная конференция молодых ученых: биоинформатиков, биотехнологов, биофизиков, вирусологов и молекулярных биологов — 2023. Novosibirsk State University, 2023. http://dx.doi.org/10.25205/978-5-4437-1526-1-290.

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Data on the comparative analysis of the env gene sequences, genome-wide sequences and diversity of BLV in the Novosibirsk region are presented. 497 blood samples from cows from private and large livestock farms were studied. According to the results of PCR DNA analysis, BLV was detected in 344 samples studied. For each of them, virus-specific regions of the env genome were obtained and decoded. Genome-wide sequences of 13 samples of genotype 7 and 44 samples of genotype 4 were obtained, and primary mutation analysis was performed for each of the genotypes.
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Yannou, Bernard, Markus Dihlmann, and Roy Awedikian. "Evolutive Design of Car Silhouettes." In ASME 2008 International Design Engineering Technical Conferences and Computers and Information in Engineering Conference. ASMEDC, 2008. http://dx.doi.org/10.1115/detc2008-49439.

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An Interactive Genetic Algorithm system is proposed for designing a car silhouette while involving the style designer in the evaluation process of a population of individuals. This IGA is based on the principle of an indirect encoding of a closed curve genotype using a primary Fourier decomposition. A crossing over operator is proposed for mixing the parents’ genes by a random weighted average into a new child’s genotype. A perceived similarity index between two genotypes is built to check that our IGA is able to converge toward a target individual starting from the genes of an initial population.
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Bylici, Elena, and Cristina Grajdieru. "Immunologic evaluation of maize collection samples." In Scientific International Symposium "Plant Protection – Achievements and Perspectives". Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2023. http://dx.doi.org/10.53040/ppap2023.41.

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Seven inbred maize lines from the active collection of Laboratory of plant genetic resources were tested for their susceptibility to fungal pathogens using visual evaluation of disease symptoms and molecular diagnostics. The highest infection rate was registered in MAN2492 and was 35%, therefore the respective genotype can be classified as susceptible. MAN2466 lacked symptoms of diseases and for MAN2488 minimum value of the respective parameter was registered (5%) – resistant genotype group. Quantitative analysis showed that the overall value of DNA sequences specific for the fungal genome was the lowest in the grain of MAN2488, MAN2491, MAN2470 genotypes.
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Bratković, Kamenko, Kristina Luković, Vladimir Perišić, Jelena Maksimović, Jasna Savić, Vera Đekić, and Mirela Matković Stojšin. "ANALYSIS OF GENOTYPE BY ENVIRONMENT INTERACTION FOR SPIKE TRAITS IN WINTER SIX-ROW BARLEY." In 1st International Symposium on Biotechnology. University of Kragujevac, Faculty of Agronomy, 2023. http://dx.doi.org/10.46793/sbt28.045b.

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This research was conducted with some spike traits of twenty winter six-row barley genotypes in six environments. The aim of this study was to determine the significance and take advantage useful genotype by environment interacton (GEI) by applying AMMI-1 model. High statistical significance GEI was determined. Wide adaptability genotypes were J-29, J-33, J-9 and J-21 for spike length (SL) as Grand and Ozren for grain number per spike (GNS). The winner genotypes in all environments were Ozren and Grand for SL as Ozren for GNS. All the examined environments can be considered as one megaenvironment, which indicates that unpredictable interactions dominate in this research.
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Vlasov, A. P., S. S. Al-Kubaysi, F. A. Ali Fuad, S. T. Al-Anbari, and B. A. Fedotov. "The role of ENOS polymorphism (C774T) in the progression of acute peritonitis and the formation of complications." In VIII Vserossijskaja konferencija s mezhdunarodnym uchastiem «Mediko-fiziologicheskie problemy jekologii cheloveka». Publishing center of Ulyanovsk State University, 2021. http://dx.doi.org/10.34014/mpphe.2021-54-57.

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In order to determine the role of ENOS (C774T) gene polymorphism in the progression of acute peritonitis and the formation of complications, a clinical and biochemical study of 40 patients with acute peritonitis was conducted. As a result of the study, it was proved that the early period of acute peritonitis is characterized by the development of endogenous intoxication, intensification of oxidative phenomena, hypercoagulation of the homeostasis system and inhibition of fibrinolysis, and in patients with acute peritonitis, carriers of the pathological TT genotype of the endothelial nitric oxide synthase gene, more pronounced deviations of homeostatic parameters are observed. Key words: acute peritonitis, genotype, DNA diagnostics, genetic testing of genotypes.
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Rocha, Willker Menezes da, Camila Freze Baez, Larissa Alves Afonso, Fernanda Nahoum Carestiato, Marianna Tavares Venceslau Gonçalves, Rafael Brandão Varella, and Silvia Maria Baeta Cavalcanti. "The use of DNA microarray assay as a diagnostic tool to study penile cancer associated with human papillomavirus." In XIII Congresso da Sociedade Brasileira de DST - IX Congresso Brasileiro de AIDS - IV Congresso Latino Americano de IST/HIV/AIDS. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/dst-2177-8264-202133p159.

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Introduction: The genital infection by the human papillomavirus (HPV) can result in a sexually transmitted disease associated with precursor lesions for carcinogenesis in the genital tract. In recent years, evidence was accumulated defining HPV as the etiologic agent of cervical cancer; however, the etiology of penile cancer is still open and lacks studies. This study aims to contribute to the epidemiologic knowledge regarding the prevalence of this virus in malignant lesions of the male genital tract, using the DNA microarray assay, a technique that allows the simultaneous detection of up to 32 different HPV genotypes. Objective: The aim of this study was to investigate the presence of HPV in penile malignant lesions, to genotype HPV, when present, to correlate the HPV infection and its genotypes with the histopathological data. Methods: A total of 112 penile cancer samples was collected in a cross-sectional study. The detection methodology consisted of (1) detecting the presence of HPV DNA by the polymerase chain reaction (PCR) technique with generic primers, (2) genotyping the HPV using the DNA microarray assay, and (3) correlation of the histopathology, tumor invasiveness, and the dispersion of malignant cells by the lymph nodes with the presence of HPV. Results: The HPV prevalence was 57.1% (64). The most prevalent genotype was the HPV16 (32.8%), followed by HPV6 (23.4%); HPV18, HPV35, and HPV45 (12.5%); HPV31 (10.9%); and HPV70 (7.8%). Of the HPV-positive samples, 25% were mixed infections. Conclusion: The role of the HPV infection was significant within the multifactorial etiology of penile cancer. There was statistical significance between the lesion invasiveness and the presence of high-risk HPV infection. Thus, genotype surveillance can promote a better understanding of the role of HPV genotypes in male cancer development, and the DNA microarray assay proved to be an efficient tool for both the epidemiological study and the diagnostics of the HPV.
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Reports on the topic "Genotype"

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Amzeri, Achmad, B. S. DARYONO, and M. SYAFII. GENOTYPE BY ENVIRONMENT AND STABILITY ANALYSES OF DRYLAND MAIZE HYBRIDS. SABRAO Journal of Breeding and Genetics, September 2020. http://dx.doi.org/10.21107/amzeri.2020.2.

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The phenotypic analysis of new candidate varieties at multiple locations could provide information on the stability of their genotypes. We evaluated the stability of 11 maize hybrid candidates in five districts in East Java Province, Indonesia. Maize hybrids with high yield potential and early maturity traits derived from a diallel cross were planted in a randomized complete block design with two checks (Srikandi Kuning and BISI-2) as a single factor with four replicates. The observed traits were grain yield per hectare and harvest age. The effects of environment, genotype, and genotype × environment interaction on yield were highly significant (P < 0.01). KTM-1, KTM-2, KTM-4, KTM-5, and KTM-6 showed higher average grain yield per hectare than the checks (Srikandi Kuning = 8.49 ton ha−1 and BISI-2 = 7.32 ton ha−1) at five different locations. The average harvest age of 11 candidates was less than 100 days. KTM-4 and KTM-5 had production yields that were higher than the average yield of all genotypes in all environments (Yi > 7.78 tons ha−1) and were considered stable on the basis of three stability parameters, i.e., Finlay–Wilkinson, Eberhart–Russell, and additive main effect multiplicative interaction (AMMI). KTM-2 had the highest yield among all tested genotypes (9.33 ton ha−1) and was considered as stable on the basis of AMMI but not on the basis of Finlay–Wilkinson and Eberhart–Russell. KTM-1 performed well only in Pamekasan, whereas KTM-6 performed well only in Sampang. Thus, these two genotypes could be targeted for these specific locations.
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Harms, Nathan, Judy Shearer, James Cronin, and John Gaskin. Geographic and genetic variation in susceptibility of Butomus umbellatus to foliar fungal pathogens. Engineer Research and Development Center (U.S.), August 2021. http://dx.doi.org/10.21079/11681/41662.

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Large-scale patterns of plant invasions may reflect regional heterogeneity in biotic and abiotic factors and genetic variation within and between invading populations. Having information on how effects of biotic resistance vary spatially can be especially important when implementing biological control because introduced agents may have different Impacts through interactions with host-plant genotype, local environment, or other novel enemies. We conducted a series of field surveys and laboratory studies to determine whether there was evidence of biotic resistance, as foliar fungal pathogens, in two introduced genotypes (triploid G1, diploid G4) of the Eurasian wetland weed, Butomus umbellatus L. in the USA. We tested whether genotypes differed in disease attack and whether spatial patterns in disease incidence were related to geographic location or climate for either genotype. After accounting for location (latitude, climate), G1 plants had lower disease incidence than G4 plants in the field (38% vs. 70%) but similar pathogen richness. In contrast, bioassays revealed G1 plants consistently received a higher damage score and had larger leaf lesions regardless of pathogen. These results demonstrate that two widespread B. umbellatus genotypes exhibit different susceptibility to pathogens and effectiveness of pathogen biological controls may depend on local conditions.
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Hovav, Ran, Peggy Ozias-Akins, and Scott A. Jackson. The genetics of pod-filling in peanut under water-limiting conditions. United States Department of Agriculture, January 2012. http://dx.doi.org/10.32747/2012.7597923.bard.

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Pod-filling, an important yield-determining stage is strongly influenced by water stress. This is particularly true for peanut (Arachishypogaea), wherein pods are developed underground and are directly affected by the water condition. Pod-filling in peanut has a significant genetic component as well, since genotypes are considerably varied in their pod-fill (PF) and seed-fill (SF) potential. The goals of this research were to: Examine the effects of genotype, irrigation, and genotype X irrigation on PF and SF. Detect global changes in mRNA and metabolites levels that accompany PF and SF. Explore the response of the duplicate peanut pod transcriptome to drought stress. Study how entire duplicated PF regulatory processes are networked within a polyploid organism. Discover locus-specific SNP markers and map pod quality traits under different environments. The research included genotypes and segregating populations from Israel and US that are varied in PF, SF and their tolerance to water deficit. Initially, an extensive field trial was conducted to investigate the effects of genotype, irrigation, and genotype X irrigation on PF and SF. Significant irrigation and genotypic effect was observed for the two main PF related traits, "seed ratio" and "dead-end ratio", demonstrating that reduction in irrigation directly influences the developing pods as a result of low water potential. Although the Irrigation × Genotype interaction was not statistically significant, one genotype (line 53) was found to be more sensitive to low irrigation treatments. Two RNAseq studies were simultaneously conducted in IL and the USA to characterize expression changes that accompany shell ("source") and seed ("sink") biogenesis in peanut. Both studies showed that SF and PF processes are very dynamic and undergo very rapid change in the accumulation of RNA, nutrients, and oil. Some genotypes differ in transcript accumulation rates, which can explain their difference in SF and PF potential; like cvHanoch that was found to be more enriched than line 53 in processes involving the generation of metabolites and energy at the beginning of seed development. Interestingly, an opposite situation was found in pericarp development, wherein rapid cell wall maturation processes were up-regulated in line 53. Although no significant effect was found for the irrigation level on seed transcriptome in general, and particularly on subgenomic assignment (that was found almost comparable to a 1:1 for A- and B- subgenomes), more specific homoeologous expression changes associated with particular biosynthesis pathways were found. For example, some significant A- and B- biases were observed in particular parts of the oil related gene expression network and several candidate genes with potential influence on oil content and SF were further examined. Substation achievement of the current program was the development and application of new SNP detection and mapping methods for peanut. Two major efforts on this direction were performed. In IL, a GBS approach was developed to map pod quality traits on Hanoch X 53 F2/F3 generations. Although the GBS approach was found to be less effective for our genetic system, it still succeeded to find significant mapping locations for several traits like testa color (linkage A10), number of seeds/pods (A5) and pod wart resistance (B7). In the USA, a SNP array was developed and applied for peanut, which is based on whole genome re-sequencing of 20 genotypes. This chip was used to map pod quality related traits in a Tifrunner x NC3033 RIL population. It was phenotyped for three years, including a new x-ray method to phenotype seed-fill and seed density. The total map size was 1229.7 cM with 1320 markers assigned. Based on this linkage map, 21 QTLs were identified for the traits 16/64 weight, kernel percentage, seed and pod weight, double pod and pod area. Collectively, this research serves as the first fundamental effort in peanut for understanding the PF and SF components, as a whole, and as influenced by the irrigation level. Results of the proposed study will also generate information and materials that will benefit peanut breeding by facilitating selection for reduced linkage drag during introgression of disease resistance traits into elite cultivars. BARD Report - Project4540 Page 2 of 10
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Weller, Joel, Harris Lewin, Micha Ron, and George Wiggans. Detection and Mapping of Genes Affecting Traits of Economic Importance in Dairy Cattle with the Aid of Molecular Genetic Markers. United States Department of Agriculture, December 1995. http://dx.doi.org/10.32747/1995.7613024.bard.

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Forty-seven poly-TG microsatellites were developed at the U of IL, and 11 genetic markers were developed at ARO, nine of which were poly-AGC microsatellites. Markers were typed on the reference families of CSIRO, Australia; GRANADA, Texas; and IRRF, Illinois, for chromosome assignment and linkage mapping. Nine North American al organizations contributed semen to the Dairy Bull DNA Repository (DBDR), which currently has 65,743 units from 3366 bulls. Semen was obtained for 31 out of 35 grandsires. Semen of 28 and 23 sons of two Israeli bulls was also collected. Eighteen grandsires were genotyped for 75 microsatellites. One thousand, three hundred and sixty-two sons with evaluation from 17 families were genotyped for 24 markers. Eleven thousand, six hundred and twenty sons genotypes were determined, of which 8,802 were informative. The genotype data was matched to the bulls' daughter yield deviations (DYD) for seven traits; milk, fat, and protein production; fat and protein percent; somatic cell concentration (SCS); and productive herd life. Seven loci had significant effects at p<0.05, but only two loci, TGLA263 and MGTG7, had significant effects at p<0.01, and the effect of TGLA263 on fat percentage was significant at p<0.0001. There was at least one significant effect for each of the seven traits analyzed.
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Gelmann, Edward P. NKX3.1 Genotype and IGF-1 Interact in Prostate Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, May 2008. http://dx.doi.org/10.21236/ada488982.

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Mitchell, Erika J. The Contribution of Genotype to Heterotopic Ossification after Orthopaedic Trauma. Fort Belvoir, VA: Defense Technical Information Center, May 2010. http://dx.doi.org/10.21236/ada613874.

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Mitchell, Erika J. The Contribution of Genotype to Heterotopic Ossification after Orthopaedic Trauma. Fort Belvoir, VA: Defense Technical Information Center, May 2011. http://dx.doi.org/10.21236/ada613875.

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Gelmann, Edward P. NKX3.1 Genotype and IGF-1 Interact in Prostate Cancer Risk. Fort Belvoir, VA: Defense Technical Information Center, May 2010. http://dx.doi.org/10.21236/ada535355.

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Breinholt, Asta, and Dalton Conley. Child-Driven Parenting: Differential Early Childhood Investment by Offspring Genotype. Cambridge, MA: National Bureau of Economic Research, December 2020. http://dx.doi.org/10.3386/w28217.

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10

Mauch, Emily, Nick Serão, Jennifer Young, John F. Patience, Nicholas K. Gabler, and Jack C. M. Dekkers. Diet by Genotype Interaction in Yorkshire Pigs Divergently Selected for Feed Efficiency. Ames (Iowa): Iowa State University, January 2017. http://dx.doi.org/10.31274/ans_air-180814-287.

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