新疆维吾尔族和汉族亚甲基四氢叶酸还原酶基因多态性研究

5,10-Methylenetetrahydrofolate Reductase Polymorphism in Uygur and Han Nationalities in Xinjiang

目的:研究新疆维吾尔族、汉族两民族亚甲基四氢叶酸还原酶(Methyleneterahyofolate reductase MTHFR)基因多态性的分布情况,获取新疆维吾尔族与汉族MTHFR 1298位群体遗传学数据。方法:应用PCR-RFLP技术检测新疆维吾尔族及汉族MTHFR1298位多态性位点基因频率及基因型频率。结果:新疆维吾尔族、汉族MTHFR 1298位C等位基因分布频率分别为12%、23%,P<0.05有统计学差异性,且新疆维吾尔族MTHFR 1298位C等位基因分布频率与现有报道的少数民族贵州苗族、布依族具有统计学差异。结论:MTHFR 1298位多态性在不同民族具有差异性:MTHFR 1298位多态性在新疆维吾尔族和汉族有民族差异;新疆新疆维吾尔族MTHFR 1298位C等位基因频率与贵州苗族、布依族少数民族之间具有民族差异性。

Objective： To study the genetic polymorphisms of methylenetrahydrofolate reductase（MT-HFR） among the Uygur and Han populations in Xinjiang and to gain genetic data for establishment of genetic polymorphism bank of Xinjiang Minorities.Methods： The technique of polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP） was usded to detect the genotype and allele frequencies at 1298 mononucleotide sites of MTHFR among the Uygur and Han populations in Xinjiang.Results： At the site of 1298,the C allele frenquencies were found to be 12% and 23% respectively for the Uygur and the Han populations,P0.05,which had statistical differences.The C allele frequencies at 1298 mononucleotide sites of MTHFR among the Uygur in Xinjiang had statistical differences with those hitherto reported Miao,Buyi populations in Guizhou.Conclusion： The polymorphisms of the 1298 mononucleotide sites of MTHFR were diverse in different populations.The C allele frequencies at the site of MTHFR1298 was differneret in the Uygur and Han population in Xinjiang.The C allele frequencies at 1298 mononucleotide sites of MTHFR among the Uygur in xinjiang was different with Miao and Buyi populations in Guizhou because of different nations.