半胱氨酸代谢相关酶基因突变与妊高征  

Genetic Research Between Gene Polymorphisms of Homcysteine Metabolism-Related Enzymes and Pre-eclamspia

作　　者：田耕[1] 佘达贤[1] 戚潜辉[1] 

机构地区：[1]广州医学院第二附属医院产科,广州510260

出　　处：《血栓与止血学》2005年第5期197-199,共3页Chinese Journal of Thrombosis and Hemostasis

基　　金：广东省医学科学技术研究基金(NO A2002289)

摘　　要：目的研究亚甲基四氢叶酸还原酶(methyleneletrahydrofolate reductase,MTHFR)基因错义突变667C→T 与妊娠高血压综合征的关系。方法应用多聚酶链反应—限制性内切酶长度多态性片断(PCR-RFLP)技术检测61例妊娠高血压综合征(妊高征组)患者及56例正常孕妇(对照组)的 MTHFR 基因错义突变667C→T。结果妊高征组 MTHFR 基因677C→T 突变纯合子(11.5%)较对照组(7.1%)明显升高。T 等位基因突变频率妊高征组(44.2%)也较对照组(17.9%)升高,差异有统计学意义(P＜0.05)。妊娠征组与子痫前期组的 MTHFR 基因677C→T 突变纯合子及 T 等位基因突变频率的比较差异无统计学意义(P＞0.05)。结论 MTHFR 基因677C→T 突变是导致孕妇易感妊高征的独立危险因素,但与妊高征的病程无关。Objective To study evaluates the association of methyleneletrahydrofolate reductase （MTHFR） -677→T mutation with preeclampsia. Methods MTHFR genotype mutation was determined by a PCR-based RFLP method in 61 cases preeclampsia and 56 cases normal pregnancy. Results The frequency of the the 677C→T MTHFR mutation（T/T genotype 11.5% ）was significantly increased in pregnancy with preeclampsia compared to normal pregnancy（7.1% ） and the frequency of T allele（44.2% ） was also significanflv increased in pregnancy with preeclampsia compared to normal pregnancy（ 17.9% ）. There were not different by frequency of the 677C→T MTHFR mutation （T/T genotype） and T allele in intergroup comparisons among gestational hypertension, mild preeclampsia and severe preeclampsia（ P〉0.05 ）. Conclusion 677 C→T MTHFR polymorphism is an associated risk factor for developing preeclampsia, but not associated with sort of preeclampsia.

关 键 词：胺氧化还原酶类 妊娠并发症 多态现象(遗传学) 突变 

分 类 号：R714.2[医药卫生—妇产科学]