Single Nucleotide Polymorphism Genetics
Mostrando 1-12 de 24 artigos, teses e dissertações.
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1. Alternative methodologies for genotyping polymorphisms in the CAST and CAPN1 genes in beef cattle
ABSTRACT The objectives of this study were to genotype single nucleotide polymorphisms (SNP) AF159246:g.2959A>G (CAST/DdeI) and AF248054.2:g.6545C>T (CAPN4751) in beef cattle by PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism), using the restriction enzyme DdeI for both SNP, and describe the use of these genotyping methodologie
R. Bras. Zootec.. Publicado em: 28/11/2019
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2. Genetics and identification of markers linked to multiflorous spikelet in hexaploid oat
Abstract The formation of naked grains is directly associated with the formation of multiflorous spikelets in oats. The objectives of this study were to determine the genetics of multiflorous spikelet and to identify molecular markers linked to this character in hexaploid oat. Genetic analysis for multiflorous spikelet was performed in the F5 and F6 generati
Crop Breed. Appl. Biotechnol.. Publicado em: 2016-03
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3. Análise de polimorfismos em tumores gliais humanos / Polymorphisms Analysis in Human Glial Tumors
The Central nervous system tumors represent about 2% of all cancers. Although the incidence of CNS tumors is small compared with other cancers, these tumors are among the most serious human malignancies, because they affect the body responsible for coordination and integration of all organic activities. Gliomas are the most common tumors of the CNS. Despite
Publicado em: 2011
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4. Genetics of homocysteine metabolism and associated disorders
Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an
Publicado em: 2010
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5. Catechol-O-methyltransferase and TMD in women / Polimorfismo genetico da Catecolamina-0-Metiltransferase (Val 158Met) e disfunção temporomandibular em mulheres
Pain is a complex experience encompassing behavioral, environmental, and genetics factors. Temporomandibular Disorders (TMD) are a musculoskeletal condition considered to have multifactorial etiology comprising local, systemic and genetic factors, which makes individuals respond differently to the development and progression of the disease. Thus, intrinsic g
Publicado em: 2010
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6. Estudo da estrutura e filogenia da população do Rio de Janeiro através de SNPs do cromossomo Y. / Philogeography study of Rio de Janeiro population using SNPs of Y-Chromosome.
A população brasileira é considerada miscigenada, derivada de um processo relativamente recorrente e recente. Aqui viviam milhões de indígenas quando começou o processo colonizatório envolvendo integrantes europeus, principalmente portugueses do sexo masculino, tornando comum o acasalamento entre homens europeus e mulheres indígenas, começando assim
Publicado em: 2010
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7. Análise do gene AIP na acromegalia familial isolada / Analysis of the AIP gene in familial isolated acromegaly
Acromegaly is a rare disfigurating and insidious disease characterized by enlargement of hands, feet and skull bones due to excess of growth hormone (GH) secreted by a pituitary tumor (somatotropinoma). The majority of the cases with acromegaly is sporadic, however it may occur in association with inherited disorders as Multiple Endocrine Neoplasia type 1 (M
Publicado em: 2010
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8. Influence of point variants of pattern recognition receptors in the susceptibility to human malaria / Influência de variantes de receptores de reconhecimento padrão na suscetibilidade à malária
Malaria is one of the major causes of disease and death worldwide, mainly of children. It is also the strongest known force for evolutionary selection in the recent history of the human genome. Besides environmental and parasite factors, host genetic factors play a major role in determining both susceptibility to malaria and the course of infection. Innate i
Publicado em: 2008
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9. A hipertensão arterial refrataria : caracterização fenotipica, avalliação cardiovascular morfo-funcional e correlação com polimorfismos geneticos de sistema renina-angiotensina e da sintase endotelial do oxido nitrico / Refractory hypertension : phenotypic characterization, cardiovascular morpho-functional assesssment and correlation with the renin-angiotensin-aldosterene and endothelial nitric oxide synthase gene polymorphisms
Refractory hypertension (HAR) is defined, according to the Seventh Joint National Committee (JNC VII), when the systolic arterial pressure remains above 140 mmHg and the diastolic arterial pressure above 90 mmHg even when taking three or more classes of anti-hypertensive agents including full-dose of a diuretic and the other agents at sub maximum doses with
Publicado em: 2006
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10. Analysis of HLA-D micropolymorphism by a simple procedure: RNA oligonucleotide hybridization.
Recent progress in the molecular genetics of HLA class II antigens has revealed the existence of multiple loci and of a large degree of polymorphism, with more individual alleles than was expected. An accurate detection and analysis of this extensive polymorphism is essential for optimal HLA typing for transplantation and for a reevaluation of HLA-disease as
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11. Accounting for Human Polymorphisms Predicted to Affect Protein Function
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's health. We used the SIFT (Sorting Intolerant From Tolerant) program to predict that 25% of 3084 nsSNPs from dbSNP, a public SNP database, would affect protein fun
Cold Spring Harbor Laboratory Press.
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12. Molecular markers reveal cryptic sex in the human pathogen Coccidioides immitis.
Coccidioides immitis, cause of a recent epidemic of "Valley fever" in California, is typical of many eukaryotic microbes in that mating and meiosis have yet to be reported, but it is not clear whether sex is truly absent or just cryptic. To find out, we have undertaken a population genetic study using PCR amplification, screening for single-strand conformati