亚甲基四氢叶酸还原酶基因677C→T多态性与皖南地区汉人弱精症的关联性

目的:探讨亚甲基四氢叶酸还原酶(methylenetetra-hydrofloate reductase,MTHFR)基因677C→T多态性与皖南地区汉人弱精子症的相关性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对131例弱精子症患者和293例正常男性的亚甲基四氢叶酸还原酶基因677C→T多态性进行基因分型。结果:亚甲基四氢叶酸还原酶基因677C和677T等位基因频率符合Hardy-Weinberg平衡(病人χ2=3.23;正常对照χ2=0.03;P>0.05),弱精子症患者中T等位基因和TT基因型显著高于正常对照组(χ2值分别为4.11和8.45,P<0.01),差异有统计学意义。结论:亚甲基四氢叶酸还原酶基因TT基因型与皖南地区汉人弱精子症相关。

Association of methylenetetrahydrofolate reductase gene 677C→T polymorphism with asthenospermia in Han population of South Anhui

Objective ： To study the distribution of methylenetetrahydrofo- late reductase（MTHFR） gene 677C →T polymorphism in patients with asthenospermia in the Han population of South Anhui Province. Methods ： The specimens from 131 patients with asthenospermia and 293 controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method for MTHFR gene 677 C→T polymorphism. Results：The allele frequencies observed were consistent with Hardy-Weinberg equilibrium（ X2 = 3.23 for the patients and X2 = 0.03 for the controls;P 〉0.05 ）. There was significant difference of T allele and TT genotype between the subjects and controls （ X2 = 4.11 and 8.45, re- spectively ; P 〈 0. 01 ）. Conclusion ： Genotype TT of MTHFR gene 677 is associated with patients with asthenospemlia in Han population from South Anhui Province.