论文部分内容阅读
目的 探讨胱硫醚β合成酶(cystathionineβsynthase, 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 re ductase, 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。
OBJECTIVE: To investigate the effects of cystathionine βsynthase (CBS) gene 844ins68, methione synthase (MS) gene A2756G, methylene tetrahydrofolate re ductase (MTHFR) C677T The Relationship between Homocysteine Metabolism Related Gene Mutations and Habitual Abortion. Methods The mutations of CBS, MS and MTHFR genes in 50 cases of habitual abortion (habitual abortion group) and 56 normal pregnant women (control group) were amplified by PCR and digested directly or by restriction endonuclease followed by gel electrophoresis Determine its genotype. Results MTHFR C677T mutation homozygous (12/50, 24.0%) in habitual abortion group was significantly higher than that in control group (4/56, 7.1%) (P <0.05), and frequency of allelic mutation in habitual abortion group / 100, 26. 0%) than the control group (20/112, 17. 9%) increased (P <0.05). CBS844ins68, MS A2756G genotype frequencies in the miscarriage group and the normal control group, the difference was not statistically significant. Conclusions MTHFR C677T homozygous mutation has a clear correlation with habitual abortion. CBS 844ins68 and MS A2756G mutation may not be enough to constitute an independent hereditary risk factor for habitual abortion.