贵州荔波汉族与雷山苗族MTHFR基因多态性分布的比较

目的比较贵州汉族、苗族亚甲基四氢叶酸还原酶基因(MTHFR)多态性的分布情况,获取 MTHFR C677T和A1298C位点的群体遗传学数据.方法应用PCR-RLFP技术调查了贵州荔波汉族及雷山苗族MTHFR基因型的分布.结果汉族MTHFR 677位T等位基因频率为22.7%低于中国北方汉族,与苗族(10.64%)差异有显著性.苗族1298位C等位基因频率为48.66%高于有文献报道的种族和民族,与汉族(28.85%)差异有显著性.677TT/1298CC双杂合子的分布频率分别是16.66%,11.11%.在苗族还发现一例677TT/1298CC双纯合子.结论 MTHFR两个位点多态性在贵州汉族和苗族有民族差异;苗族A1298C位点C等位基因频率是有文献报道最高的民族.

Comparing the distrbution of genetic polymorphism of MTHFR reductase between Han populations of Libo and Miao of Leishan in Guizhou

Objective: The purpose of this study is to compare the polymorphisms of two monoucleotides of methylenetetrahydrofolate Reductase (MTHFR) between the Han populations of Libo and Miao of Leishan in Guizhou to obtain genetic data. Methods: PCR-RFLP technique was used to detect C677T and A 1298C polymorphisms of MTHFR. Results: In Han population, MTHFR C677T the allele frequencies of 677T were 22.7%, which are accordant with the frequency of the Han population of south but lower than nouth of China. They are significantly different between the Han populations and Miao (10.64%) .In addition, For Miao 1298C homozygotes frequencies (48.66%) are higher than those reported by others. The ferquencies of combined heterozygosity for the C677T and A 12989C mutations in Han, Miao were 16.66%, 11.1%. One case of combined homozygote of 677T and 1298C was found in Miao .Conclusion: The two genetic polymorphisms of MTHFR in this study are different between Han populations and Miao of Guizhou; For Miao ,1298C homozygotes frequencies are highest in reported by others.