反复妊娠丢失患者的亚甲基四氢叶酸还原酶的多态性

Methylenetetrahydrofolate reductase gene polymorphism in women with recurrent pregnancy loss

目的检测反复妊娠丢失（recurrent pregnancy loss，RPL）妇女亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）的多态性。方法选择不明原因的反复妊娠丢失二次以上的妇女71例，正常对照93例，无妊娠丢失及血栓病史，除外口服避孕药妇女。MALDITOF质谱检测技术检测MTHFR的多态性C677T、A1298C、T1317C和G1793A。结果RPL妇女MTHFR C677T、G1793A的杂合子和纯合子的突变率均明显高于对照组，差异有显著性（P〈0．05）。MTHFR的A1298C在RPL组和正常对照组无明显差别。T1317C在两组中均未发现。RPL组连锁基因频率677CT／1793GA明显高于正常对照组（RR=4．92）。结论RPL与MTHFR多态性密切相关，MTHFR C677T、G1793A突变是RPL的危险因素。其连锁基因突变可使妊娠丢失的发生率增加4．92倍。

Objective To examine the methylenetetrahydrofolate reductase （MTHFR） gene polymorphism in women with recurrent pregnancy loss（RPL）. Methods Totally, 71 cases with the history of at least two pregnancy losses and 93 fertile parous women without pregnancy loss and thrombosis history were selected as the RPL and control group. Those who were taking oral contraceptive pills were excluded. MTHFR gene polymorphism of C677T, A1298C, T1317C and G1793A were detected by MALDI-TOF technique. Results The prevalence of the homozygote and heterozygote of MTHFR C677T and G1793A were all statistically higher in the RPL group than in the control （P〈0.05）. In contrast, the distribution of MTHFR genotypes A1298C did not differ between the two groups. Gene T1317C was not found in either group. And the frequency of linkagegenes of 677CT/1793GA was higher in the RPL group than in the control （RR= 4.92）. Conclusions The MTHFR C677T and G1793A may be an independent risk factor for RPL. The mutation of linkage gene put 4.92 times increase in the incidence of RPL.