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目的研究N5,N10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydro-folate reductase,MTHFR)基因位点C677T的多态性与反复自然流产(recurrent spontaneous abortion,RSA)发生的关系。方法采用聚合酶链反应-限制性片段长度多态(PCR-RFLP)技术检测134例RSA患者和126例正常妇女MTHFR基因C677T位点的分布和频率。结果①RSA组T/T型出现频率高于对照组,C/C型以及C/T+T/T型频率两组没有显著差异。②RSA组的T等位基因频率高于对照组。结论 MTHFR基因位点T/T型突变是RSA的危险因素。
Objective To investigate the relationship between polymorphism of N5, N10-methylenetetrahydro-folate reductase (MTHFR) gene C677T and the occurrence of recurrent spontaneous abortion (RSA). Methods The distribution and frequency of MTHFR gene C677T in 134 RSA patients and 126 normal women were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results ① The frequency of T / T type in RSA group was higher than that in control group. There was no significant difference between C / C type and C / T + T / T type. ②RSA group T allele frequency higher than the control group. Conclusion T / T mutation of MTHFR locus is a risk factor of RSA.