印度北方邦东部亚甲基四氢叶酸还原酶C677T多态性的患病率
Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in eastern Uttar Pradesh.
作者信息
Rai Vandana, Yadav Upendra, Kumar Pradeep
机构信息
Department of Biotechnology, Human Molecular Genetics Laboratory, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India.
出版信息
Indian J Hum Genet. 2012 Jan;18(1):43-6. doi: 10.4103/0971-6866.96645.
AIM
This study was aimed to evaluate the 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation in eastern Uttar Pradesh population.
MATERIALS AND METHODS
Polymerase chain reaction (PCR) using specific primers followed by amplicon digestion by Hinf I restriction enzyme was used for MTHFR C677T polymorphism analysis. Total 250 subjects were analyzed.
RESULTS
The CC genotype was found in 192 subjects, followed by CT in 56 subjects and TT in 2 subject. Genotype frequencies of CC, CT and TT were 0.768, 0.224 and 0.008, respectively. The frequency of C allele was found to be 0.88 and that of T allele was 0.12.
CONCLUSION
It is evident from the results of the present study that the percentage of homozygous genotype (CC) is highest in the target population.
目的
本研究旨在评估印度北方邦东部人群中5,10 - 亚甲基四氢叶酸还原酶（MTHFR）C677T突变情况。
材料与方法
采用特异性引物进行聚合酶链反应（PCR），随后用Hinf I限制性内切酶对扩增产物进行消化，用于MTHFR C677T多态性分析。共分析了250名受试者。
结果
192名受试者为CC基因型，56名受试者为CT基因型，2名受试者为TT基因型。CC、CT和TT基因型频率分别为0.768、0.224和0.008。发现C等位基因频率为0.88，T等位基因频率为0.12。
结论
从本研究结果可以明显看出，目标人群中纯合基因型（CC）的比例最高。
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