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Prevalence of the C677T Single-Nucleotide Polymorphism in the Methylenetetrahydrofolate Reductase Gene Among Pakistani Ethnic Groups

机译:C677T单核苷酸的患病率多态性在Methylenetetrahydrofolate还原酶基因在巴基斯坦民族

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摘要

Methylenetetrahydrofolate reductase is an important enzyme in metabolism of homocysteine, and a mutation in the gene predisposes individuals to several disorders related to homocysteine levels. Polymorphism at С677Т shows marked heterogeneity based upon ethnicity and geographical location. Pakistani population consists of various ethnic groups confined to different regions of the country where congenital and genetic defects are a major health concern. We have analyzed the distribution of С677Т alleles in different Pakistani ethnic groups. A cross-sectional study was conducted from all the four provinces of the country with samples representing the 14 different ethnic clans. A questionnaire with details of their ethnic origin was used, and informed consent was obtained. Blood samples from 701 individuals were collected for DNA isolation and subsequent С677Т single-nucleotide polymorphism determination. The data were statistically analyzed. The study revealed that genotypic frequency for CC varied from 0.89 (Mohanna) to 0.38 (Hazara), CT from 0.56 (Hazara) to 0.11 (Mohanna), and TT from 0.06 to 0. Our data revealed a varied distribution of С677Т mutation. This information could be helpful for designing future public health strategies, as it can be used to predict the prevalence of several disorders associated with genetic predisposition due to methylenetetrahydrofolate reductase С677Т alleles.
机译:Methylenetetrahydrofolate还原酶是一个同型半胱氨酸代谢的重要酶,突变基因的影响个人几个障碍有关同型半胱氨酸的水平。基于种族和异质性地理位置。由各种民族的局限于不同地区的先天性和遗传缺陷是一个主要的健康问题。我们分析了677ТС的分布巴基斯坦等位基因在不同的民族。从所有的横断面研究四个省的国家样本代表14个不同民族部落。他们的民族起源和一些细节的问卷。那些细节使用,知情同意。收集血液样本701人DNA隔离和后续С677Т单核苷酸多态性的决心。数据进行统计分析。透露,CC基因型的频率变化从0.89 (Mohanna) 0.38(哈扎拉人),CT0.56(哈扎拉人)到0.11 (Mohanna),并从0.06 TT为0。677年СТ突变。设计未来的公共卫生策略它可以用来预测的患病率一些疾病与遗传有关由于methylenetetrahydrofolate倾向还原酶С677Т等位基因。

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