同型半胱氨酸代谢相关酶基因多态性与习惯性流产关系的研究  

Relationship between genetic polymorphism of homocysteine metabolism enzyme and unexplained repeated spontaneous abortion

作　　者：宋绿茵[1] 戚潜辉[1] 佘达贤[1] 张宏英[1] 陈盛强[1] 李锦玉[1] 

机构地区：[1]广州医学院第二附属医院妇产科,510260

出　　处：《中华围产医学杂志》2005年第3期160-164,共5页Chinese Journal of Perinatal Medicine

摘　　要：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 explore the significance of gene mutations of cystathionine β synthase (CBS) 844ins68,methione synthase (MS) A2756G and methylene tetrahydrofolate reductase (MTHFR) C677T in patients with unexplained repeated spontaneous abortion(URSA). Methods The genotypes of CBS,MS and MTHFR in 50 patients and 56 healthy controls were determined by PCR-based assay and their restricted enzyme digested maps were analyzed. Results Allelic frequency of MTHFR 677C→T mutations in URSA patients was obviously higher than those in controls (24.0% vs 7.1%). The frequency of allelic mutations was elevated in the URSA group comparing with the control (26.0% vs 17.9%). No significant difference was shown in the frequency of CBS and MS mutations between the two groups. Conclusions The MTHFR 677 C→T mutation is associated with URSA. CBS and MS mutations might not be an independent risk factor for URSA.

关 键 词：同型半胱氨酸代谢 习惯性流产 酶基因多态性 844ins68 亚甲基四氢叶酸还原酶 MTHFR 胱硫醚Β合成酶 甲硫氨酸合成酶 基因C677T C677T突变 遗传性危险因子 基因突变频率 酶基因突变 PCR扩增 基因突变点 内切酶消化 正常对照组 

分 类 号：R714.21[医药卫生—妇产科学]