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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MTHFR 1298 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。

英文摘要:

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, P<0.05, 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.

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