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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因667位点多态性在青岛市汉族育龄妇女中的分布状况。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测98份育龄妇女外周血MTHFR C667T基因型分布。结果本研究人群MTHFR 677位点基因的CC、CT、TT基因型频率分别为24.5%、53.1%、22.4%,T等位基因频率为0.49。结论青岛市汉族育龄妇女MTHFR基因667位点多态性与其他地区有较大不同,调查可以为相关研究提供相应的分子生物学依据。
Objective To investigate the polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene 667 locus in women of childbearing age in Qingdao Han nationality. Methods The genotypes of MTHFR C667T in peripheral blood of 98 women of childbearing age were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequencies of CC, CT and TT genotypes of MTHFR 677 loci in this study population were 24.5%, 53.1% and 22.4% respectively, and the frequency of T allele was 0.49. Conclusion The polymorphism of MTHFR gene 667 in Han women of childbearing age in Qingdao is quite different from other regions. The survey can provide relevant molecular biology evidences for related research.