华南地区汉族人群亚甲基四氢叶酸还原酶基因多态性分析

目的了解亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性在华南地区汉族健康人群、原发性高血压患者和高血压合并冠心病患者中的分布情况。方法采用芯片技术对359例人群的MTHFR C677T基因多态性进行检测,并统计男女间基因型频率的差异。结果野生型CC最多见占54.9%,突变型CT占33.1%和TT占12.0%,野生型与突变型在男女人群间的分布差异有统计学意义(P0.05);TT的频率在高血压合并冠心病患者与健康人群和原发性高血压患者中分布差异均有统计学意义(P0.05)。结论 MTHFR C677T的多态性分布在男女人群间有差异,也与原发性高血压患者冠心病的发生相关。

Analysis on gene polymorphism of MTHFR C677Tin Han population of south China area

Objective To investigate the distribution situation of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism among healthy Han population ,patients with primary hypertension and patients with hypertension complicating coro‐nary heart disease(CHD) in south China area .Methods MTHFR C677T gene polymorphism in 359 cases was detected by adopting the microarray method .The differences of genotypes frequencies were statistically compared between males and females .Results The wild type CC genotypes were common ,accounting for 54 .9% ,the mutation type CT accounted for 33 .1% and TT for 12 .0% . The distribution difference of wild type and mutation type had statistical difference between the male and female populations (P<0 .05);the TT frequency distribution had statistical difference among the patients with hypertension complicating CHD ,healthy population and patients with primary hypertension (P<0 .05) .Conclusion MTHFR C677T gene polymorphism distribution has difference between male and female populations ,and is related to the CHD occurrence in the patients with primary hypertension .