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目的探讨亚甲基四氢叶酸还原酶基因多态性(MTHFR C677T)及血浆同型半胱氨酸(HCY)与复发性流产的关系。方法非孕期复发性流产患者100例,对照组50例,MTHFR基因C677T多态性采用聚合酶链反应-限制性片段长度多态性技术检测,HCY检测采用酶循环法于全自动生化分析仪上完成。结果病例组的HCY水平明显高于对照组,差异有统计学意义(P<0.05);对两组进行MTHFR基因型及频率分析,病例组TT基因型虽较对照组高,但差异无统计学意义(P<0.05);组别和基因型间的HCY水平的比较,得出组别和基因型之间HCY水平差异均具有统计学意义(P<0.05)。不同基因型进行组内两两比较,得出TT与CT、CC均具有统计学差异,CT、CC之间没有统计学差异。结论患者MTHFR C677T突变及血浆HCY水平的增高与复发性流产关系密切。
Objective To investigate the relationship between methylenetetrahydrofolate reductase gene polymorphism (MTHFR C677T), plasma homocysteine (HCY) and recurrent spontaneous abortion. Methods 100 cases of non-pregnant recurrent spontaneous abortion and 50 cases of control group, C677T polymorphism of MTHFR gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). HCY test was performed on an automated biochemical analyzer carry out. Results The HCY level in case group was significantly higher than that in control group (P <0.05). The MTHFR genotype and frequency of two groups were higher than those in control group, but the difference was not statistically significant (P <0.05). The comparison of HCY levels between groups and genotypes showed that the difference of HCY levels between groups and genotypes was statistically significant (P <0.05). Different genotypes were compared within groups, and the results showed that there were significant differences between TT, CT and CC, but there was no significant difference between CT and CC. Conclusions MTHFR C677T mutation and plasma HCY levels are closely related to recurrent spontaneous abortion.