夫妻配对MTHFR基因型分布与不明原因反复流产的关系

目的　探讨亚甲基四氢叶酸还原酶 (MTHFR)基因多态性在夫妻间的不同存在形式与不明原因反复流产之间的关系。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFPL)的方法 ,对 32对有两次及两次以上不明原因流产史的夫妇和 39对健康夫妇进行MTHFR6 77C→T突变相关性研究。结果　病例组与正常对照组流产发生的危险性比较 ,夫妻双方都是纯合或杂合突变型 ,其基因型分布与流产发生的危险性增高高度相关 ,OR =2 94 1,95 %CI[1.0 6 2～ 8.133];夫妻双方有一人是纯合或杂合突变型 ,而另一人为野生型的 ,其基因型分布与流产发生的危险性无关联 ,OR =0 .819,95 %CI[0 .32 0～ 2 .0 94 ];夫妻双方都是野生型 ,其基因型分布与发生流产的危险性降低高度相关 ,OR =0 188,95 %CI[0 .0 4 6～ 0 .76 0 ]。结论　子代携带MTHFR纯合或杂合突变可能是胚胎早期发育异常的原因之一 ,从而导致流产的发生。

The methylenetrahydrofdate reductase genotypes of the couples with unexplained recurrent pregnancy loss

Objective To explore an association between genetic polymorphism of MTHFR genotypes of the couples and UPRL. Methods Thirty two couples with two or more URPL and 30 healthy couples were studied. The MTHFR 677C→T genotypes were determined by polymerase chain reaction restriction fragment length polymorphism(PCR RFLP). Results The study of 32 couples and 39 control couples showed that the increased risk of fetal loss in the couples highly correlated with TT homozygous or TC heterozygous genotypes (OR=2.914, 95%CI[1.062～ 8.133 ]). There was no correlation between the risk of fetal loss and the couples, one of whom was TT homozygous or TC heterozygous, the other was wild genotype (OR=0.819, 95%CI [0.320～2.094]) . The decreased risk of fetal loss in the couples highly correlated with wild genotype(OR= 0.188, 95%CI[0.046～0.760]). Conclusion The results suggest that the reason for miscarrage is the offspring with MTHFR heterozygous and homozygous. This mutation results in a toxic effect on the fetus and lead to the disorder of embryonic early development.