安徽蚌埠地区汉族人群亚甲基四氢叶酸还原酶基因多态性

Polymorphisms in the 5,10-methylene Tetrahydrofolate Reductase Gene in Bengbu Han Population

目的:探讨蚌埠地区汉族人群亚甲基四氢叶酸还原酶(MTHFR)基因多态性C677T、A1298C的分布特征,并与其它地区人群进行比较。方法:采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对78例健康者进行了基因分型,并结合文献与其它地区、民族的基因型和等位基因频率分布进行比较。结果:蚌埠汉族人MTHFRC677T的三种基因型CC、TC和TT频率分别为48.7%、39.8%和11.5%,T等位基因频率是31.4%;A1298C的三种基因型AA、AC和CC频率分别为59.0%、38.5%和2.5%,C等位基因频率是21.8%。结论:蚌埠汉族人与其它地区人群MTHFR基因多态性的分布有差异。

Objective：To investigate the distributions of two polymorphisms in the MTHFR gene in Bengbu Han population.Methods： SNP C677T and A1298C in the MTHFR gene were genotyped by PCR-RFLP method among 78 healthy people.And the allelic and genotypic frequencies were compared with those reported in other population.Results： In Bengbu Han population,the CC,TC,and TT genotypic frequencies of SNP C677T were 48.7 %,39.8 %,and 11.5 %,respectively.The T allelic frequency was 31.4 %.For SNP A1298C,the frequencies of AA,AC,and CC genotype were 59.0 %,38.5 %,and 2.5 %,respectively.The C allelic frequency was 21.8 %.Conclusion： There is a significant difference in the distributions of C677T and A1298C in the MTHFR gene between Bengbu Han population and other population.