摘要
目的探讨甘肃地区复发性自然流产(RSA)与遗传性易栓症相关基因:亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR C677T),凝血因子V(FV G1691A)和凝血酶原(FII G20210A)基因突变的关系。方法应用测序技术对甘肃地区102例RSA患者和100例健康妇女,进行MTHFR C677T、FV G1691A和FⅡG20210A的基因突变检测。结果 MTHFR基因C677T位点的T/T突变率(41.2%)在RSA组高于正常对照组(26%)风险比率(risk ratio,RR)为3.12(95%CI,1.36-7.13,P=0.005),T等位基因突变频率(57.8%)在RSA组高于正常对照组(43.5%),RR为2.55(95%CI,0.99-2.40,P<0.01)。MHTFR的C677T基因型分布有统计学意义。但是,FV基因的G1691A位点和FⅡ基因的G20210A位点,在RSA组和正常对照组均为G/G,无突变存在。结论 MTHFR基因C677T位点的T/T基因型是甘肃地区妇女RSA发病的危险因素。FV G1691A和FⅡG20210A突变在甘肃地区妇女RSA中发病率较低。
Objective：To explore the association between polymorphism of the methylenetetrahydrofolate reductase gene（MTHFR C677T）,Factor V gene（FV G1691A）and prothrombin gene（FII G20210A）with recurrent spontaneous abortion in Gansu province. Methods：one hundred and two women with recurrent spontaneous abortion and one hundred controls were genotyped for MTHFR gene,FV gene and FII gene polymorphisms by sequencing technique.Results：MTHFR gene T/T genotype were increased in RSA（41.2%）versus controls（26%）and the risk ratio was 3.12（95% CI,1.36-7.13,P=0.005）;MTHFR gene T allele frequencies were increased in RSA（57.8.2%）versus controls（43.5%）and the risk ratio was 2.55（95% CI,0.99-2.40,P〈0.01）. There was significant difference between the two groups with genotype of MTHFR C677 T gene. However,FV G1691 A and FII G20210 A mutation were not found either in RSA or in controls. Conclusion：MTHFR gene C677 T polymorphism may be one of the genetic risk factors of RSA in Gansu province. FV G1691 A and FII G20210 A gene mutation may be have a lower incidence of RSA in Gansu province.
出处
《中国优生与遗传杂志》
2015年第3期27-29,34,共4页
Chinese Journal of Birth Health & Heredity
基金
甘肃省自然基金项目(1107RJZA108)
关键词
复发性自然流产
遗传性易栓症
MTHFR
凝血因子Ⅴ
凝血酶原
基因多态性
测序
Recurrent spontaneous abortion
Inheritable thrombophilia
Methylenetetrahydrofolate reductase gene
Factor V gene
prothrombin gene
Genetic polymorphism
Sequencing
