【摘要】 目的:检测MTHFR基因C677T多态性及其与原因不明复发性自然流产(Unexplained recurrent spontaneous abortion,URSA)的关系。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对非孕期URSA妇女159例及127例正常对照妇女进行MTHFR基因C677T等位基因检测,并对部分标本进行测序验证,计算患者组与对照组的基因型频率以及该多态性与URSA的相关性。结果:患者组与对照组T/T纯合子频率分别为37.1%(59/159)和16.5%(21/127),患者组与对照组T等位基因频率分别为62.9%(200/318)和47.2%(120/254),两组分别比较,差异均有统计学意义(P<0.01),对TT基因型与URSA的相关性分析表明,TT基因型妇女发生URSA的相对风险增加(OR=2.978,95%CI 1.678～5.256)。结论:MTHFR基因C677T多态性可能是山东地区URSA发病的遗传风险因素。更多还原

【Abstract】 Objective:To detect the relationship between methylenetetrahydrofolate reductase(MTHFR) gene C677T polymorphism and unexplained recurrent spontaneous abortion(URSA). Methods:Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used to detect the C677T allele of MTHFR gene in 159 women with URSA during non-pregnancy and 127 normal women,partial of the samples received gene sequencing,the frequencies of genotype in case group and control group were calculated,the correlation between the polymorphism and URSA was analyzed. Results:The frequencies of T/T homozygote in case group and control group were 37.1%(59/159) and 16.5%(21/127),respectively;the frequencies of T allele in case group and control group were 62.9%(200/318) and 47.2%(120/254),respectively,there was significant difference between the two groups(P<0.01);the correlation analysis of TT genotype and URSA showed that the relative risk of URSA among the women with TT genotype increased(OR=2.978,95% CI:1.678～5.256). Conclusion:MTHFR gene C677T polymorphism may be one of the genetic risk factors of URSA in Shandong.更多还原