中国青岛汉族人群亚甲基四氢叶酸还原酶基因多态性分布研究

①目的 探讨青岛地区亚甲基四氢叶酸还原酶（MTHFR）基因多态性在人群中的分布状况。②方法 用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，检测86份正常人外周血DNA的基因型分布。③结果 本研究人群MTHFR677位点基因的CC、CT和TT基因型频率分别为12.8％、48.8％、38.4％，T等位基因频率为62.8％；1298位点基因的AA、AC基因型频率分别为77.9％、22.1％，C等位基因频率为11.0％，此位点未发现纯合突变型。④结论 青岛汉族人群中MTHFR基因677及1298位点的遗传多态性与其他研究结果有较大不同，可能由于多态性分布存在地域及群体差异性有关。各地区MTHFR基因型分布调查可以为相关疾病研究提供相应的分子生物学基础。

GENETIC POLYMORPHISM OF METHYLENE TETRAHYDROFOLATE REDUCTASE IN HAN PEOPLE IN QINGDAO

Objective To investigate the distribution of polymorphisms of methylene tetrahydrofolate reductase (MTHFR) gene among Han people in Qingdao. Methods DNA MTHFR genotype was detected with PCR-RFLP in 86 blood samples of the normal adults. Results The frequencies of the C677T genotypes were as follows: TT,38.4%;CT,48.8%;CC, 12.8%. The frequencies of the 1298 AA, AC genotypes were 77.9%, 22.1%. CC was not detected. The allele frequencies of 677T and (1298C) were 62.8% and 11.0%. Conclusion In Han population in Qingdao, MTHFR 677 and 1298 polymorphisms is different from those reported previously, which may be due to the difference in region and population. Studies from different regions can provide molecular biological foundation for related diseases.