中文摘要：

目的探讨父亲亚甲基四氢叶酸还原酶（MTHFR）基因C677T多态性是否与母亲不明原因反复自然流产（uRSA）的发生有关。方法通过聚合酶链式反应一测序（PCR-测序）的方法对329对河南汉族URSA夫妇（观察组）及292对河南汉族健康夫妇（对照组）基因型进行分析。结果无论是在对照组中还是观察组中，男、女之间的MTHFRC677T多态性位点的C和T等位基因频率和各基因型频率分布差异均无统计学意义（P〉0．05）；观察组中男女各方的MTHFRC677T多态性位点的T等位基因频率和含T的各基因型频率均显著高于相应的对照组（P〈0．05），在女性中T等位基因是c等位基因发生URSA风险的2．267倍（95％CI：1．804～2．843），在男性中T等位基因是c等位基因发生uRsA风险的2．239倍（95％CI：1．783～2．811）。夫妻联合基因型分析中，夫妇TT／TT基因型发生URSA的风险最高，是CC／CC基因型夫妇的19．909倍（95％CI：8．608～46．049）。结论父母的MTHFR677C〉T是URSA发生的独立遗传易感因素。

英文摘要：

Objective To explore whether the paternal MTHFR gene C677T polymorphism being associated with the susceptibility of maternal unexplained recurrent spontaneous abortion （URSA）. Methods Totally 329 Henan Han couples with URSA （observation group） and 292 Henan Han healthy couples were detected the MTHFR C677T genotypes by the PCR-sequencing. Results The allele C and T frequencies and genotype frequencies of MTHFR C677T polymorphism site had no statistically significant difference between males and females within either URSA group or control group （P〉0.05） ;the frequency of allele T and the frequencies of allele T-included genotypes at C677T polymorphism site were significantly increased in the males and females of the ob- servation group compared with the control group（P〈0.05）. The URSA risk occurrence in the female allele T was 2. 267 times of that the allele C（95% CI：1. 804-2. 843）, while the URSA risk occurrence in the male allele T was 2. 239 times of that the allele C （95% CI：1. 783- 2.811）. In the combined genotype analysis within the couples, the URSA risk occurrence in couple TT/TT genotype was highest and was 19. 909 times of that in couple CC/CC genotype（95% CI： 8. 608-46. 049）. Conclusion The parental MTHFR 677C〉T is a independent genetic susceptibility factor for URSA occurrence.