Rai V, Yadav U, Kumar P
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur-222001, India.
Cell Mol Biol (Noisy-le-grand). 2012 Jun 15;58 Suppl:OL1695-701.
The aim of the present study was to investigate the distribution of 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism in two caste group populations of eastern Uttar Pradesh. This mutation has been suggested to be positively associated with the risk of several congenital and multifactorial disorders. Frequency of mutant T allele differs in various ethnic and geographical populations of the world. MTHFR C677T mutation analysis was carried out by PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method and the samples studied were randomly selected from the healthy individuals belonging to two caste populations. In Brahmin samples, genotype frequencies of CC, CT and TT were 0.727, 0.25 and 0.023 respectively whereas in Rajput samples, CC genotype was observed in 88 samples, CT genotype in 25 and TT genotype was found in 2 samples. Frequency of mutant T allele was found to be 0.147 in Brahmin and 0.126 in Rajput populations. The percentage of CT genotype and C allele were high in both the populations.
本研究的目的是调查印度北方邦东部两个种姓群体中5,10-亚甲基四氢叶酸还原酶（MTHFR）基因多态性的分布情况。有人认为这种突变与几种先天性和多因素疾病的风险呈正相关。突变型T等位基因的频率在世界不同种族和地理群体中有所不同。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对MTHFR C677T突变进行分析，所研究的样本是从属于两个种姓群体的健康个体中随机选取的。在婆罗门样本中，CC、CT和TT基因型频率分别为0.727、0.25和0.023，而在拉杰普特样本中，88个样本为CC基因型，25个样本为CT基因型，2个样本为TT基因型。发现婆罗门群体中突变型T等位基因频率为0.147，拉杰普特群体中为0.126。两个群体中CT基因型和C等位基因的百分比都很高。
