Rai Vandana, Yadav Upendra, Kumar Pradeep, Yadav Sushil Kumar
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur - 222 001, Uttar Pradesh, India.
Indian J Med Sci. 2010 May;64(5):219-23.
The aim of the present study was to investigate the distribution of methylenetetrahydrofolate reductase (C677T) polymorphism in the Muslim population of eastern Uttar Pradesh.
Total 56 subjects were analysed for MTHFR C677T polymorphism. C677T mutation analysis was done according to the PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism) method.
The frequencies of three genotypes CC, CT, and TT were 0.857, 0.125, and 0.07, respectively, and the frequency of mutated T allele was found to be 0.080.
Genotypes and allele frequencies revealed the low prevalence of MTHFR C677T polymorphism in Indin Muslims. C677T mutation has been suggested to be positively associated with the risk of several congenital and multifactorial disorders. The low frequency of T/T genotype in the Muslim population may be due to malnutrition in pregnant women, because of insufficient intake of folate is considered to be a survival disadvantage for foetuses with T/T genotype.
本研究旨在调查印度北方邦东部穆斯林人群中亚甲基四氢叶酸还原酶（C677T）基因多态性的分布情况。
对56名受试者进行了MTHFR C677T基因多态性分析。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行C677T突变分析。
CC、CT和TT三种基因型的频率分别为0.857、0.125和0.07，突变型T等位基因的频率为0.080。
基因型和等位基因频率显示，MTHFR C677T基因多态性在印度穆斯林中患病率较低。C677T突变被认为与多种先天性和多因素疾病的风险呈正相关。穆斯林人群中T/T基因型频率较低可能是由于孕妇营养不良，因为叶酸摄入不足被认为对T/T基因型胎儿是一种生存劣势。
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