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Indian J Hum Genet ; 2011 May; 17(Suppl 1): 48-53
Artículo en Inglés | IMSEAR | ID: sea-138984

RESUMEN

BACKGROUND: Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian subjects from different locations of south India representing the heterogeneous ethnic background of the population. MATERIALS AND METHODS: Common variants of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULT1A1 gene polymorphisms were screened from healthy unrelated south Indian volunteers. Genotypes were determined using RFLP analysis of polymerase chain reaction-amplified products and confirmed by DNA sequencing. Chi-square test was performed to test for deviation from the Hardy-Weinberg equilibrium for each locus. RESULTS: Gene allele frequency for several polymorphisms in our study differed significantly between the populations of other nations reported for several of the SNPs. These results demonstrate that the populations in different geographic regions may have widely varying genetic allele frequencies for clinically relevant SNPs. CONCLUSION: The present study reports, for the first time, the frequency distribution of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULTIA1 gene polymorphisms in a south Indian population. Population-specific genetic polymorphism studies will help in practicing pharmacogenomic principles in the clinics.


Asunto(s)
5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/genética , Arilsulfotransferasa/genética , Cistationina betasintasa/genética , Ferredoxina-NADP Reductasa/genética , Ácido Fólico/genética , Variación Genética/genética , Glicina Hidroximetiltransferasa/genética , Humanos , Preparaciones Farmacéuticas/metabolismo , Polimorfismo Genético , Grupos de Población , Timidilato Sintasa/genética
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