【摘要】 目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与中国东北地区人群习惯性流产的关系,阐明其可能发生的分子基础,为该病基因诊断及易感人群的预防、治疗和预后提供新思路。方法:应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测50例有生育史健康妇女(对照组)和56例习惯性流产女性(病例组)的MTHFR基因C677T多态性。结果:MTHFR基因C677T存在CC、CT和TT3种基因型。病例组CC、CT和TT基因型频数分布与对照组比较差异有显著性(χ2=6.254,P=0.044),TT与CC基因型频数分布比较差异有显著性(χ2=6.345,P=0.012),TT与CT基因型频数分布比较差异无显著性(χ2=2.099,P=0.147)。病例组T等位基因频数分布与C等位基因频数分布比较差异有显著性(χ2=7.054,P=0.008,OR=2.098,95%CI:1.210~3.636)。结论:MTHFR基因C677T多态性与中国东北地区人群习惯性流产有关联,T等位基因可能是习惯性流产遗传易感因素之一。更多还原

【Abstract】 Objective To investigate the association between methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphism and habitual abortion in northeast China population,interpret its possible molecular basis,and provide scientific evidence for this disease’ s gene diagnosis and provide new ideas of precaution,therapy and prognosis for the women with susceptibility to habitual abortion.Methods Polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) was used to detect the MTHFR gene C677T polymorphism in 50 normal health control women with breed history(control group) and 56 cases with habitual abortion(case group).Results MTHFR gene C677T existed three genotypes:CC,CT,and TT.The genotypic frequency of CC,CT and TT had significant difference between control and case groups(χ2=6.254,P=0.044).The genotypic frequency had significant difference between TT and CC(χ2=6.345,P=0.012).The genotypic frequency had no significant difference between TT and CT(χ2=2.099,P=0.147).The allelic frequency had significant differences between T and C(χ2=7.054,P=0.008,OR=2.098,95%CI:1.210-3.636).Conclusion MTHFR gene C677T polymorphism has relationship with habitual abortion from northeast China population and T allele may be one of the genetic susceptibility factors to habitual abortion.更多还原