Abstract
目的 探讨胱硫醚β合成酶(cystathionine β synthase,CBS)基因844ins68、甲硫氨酸合成酶(methione synthase,MS)基因A2756G、亚甲基四氢叶酸还原酶(methylene tetrahydrofolate reductase,MTHFR)基因C677T三种同型半胱氨酸代谢相关酶基因突变与习惯性流产的关系. 方法用PCR扩增50例习惯性流产患者(习惯性流产组)及56例正常孕妇(对照组)的CBS、MS、MTHFR基因突变点,直接或经限制性内切酶消化后行凝胶电泳确定其基因型.结果习惯性流产组MTHFR C677T突变纯合子(12/50,24.0%)较对照组(4/56,7.1%)明显升高(P＜0.05),且等位基因突变频率习惯性流产组(26/100,26.0%)较对照组(20/112,17.9%)升高(P＜0.05).CBS844ins68、MS A2756G各种基因型频率在流产组与正常对照组之间的差异无统计学意义.结论MTHFR C677T纯合子突变与习惯性流产有明确的相关关系;CBS 844ins68、MS A2756G突变可能不足以构成习惯性流产的独立遗传性危险因子。
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