MTHFR基因C677T位点多态性与不明原因重复性自然流产的相关性  

Study on the relationship of MTHFR polymorphisms with unexplained recurrent spontaneous abortion

作　　者：李晓梅[1] 张友忠[1] 许燕雪[1] 江森[1] 

机构地区：[1]山东大学齐鲁医院妇产科,济南250012

出　　处：《中华医学遗传学杂志》2004年第1期39-42,共4页Chinese Journal of Medical Genetics

基　　金：山东省计生委资助项目 (98- 1 6)~~

摘　　要：目的　检测不明原因重复性流产 (unexplained recurrent spontaneous abortion,URSA)患者亚甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTH FR)基因 C6 77T位点多态性 ,探讨其与血清同型半胱氨酸、叶酸、维生素 B1 2 及与不同临床特征的关系。　方法　 U RSA非孕期患者 5 7例 ,对照组 5 0名 ,空腹血清总高半胱氨酸 (homocysteine,Hcy)的检测采用高压液相色谱法 ,血清叶酸、维生素 B1 2 的检测采用放射免疫法。MTH FR基因 C6 77T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。结果　 URSA患者组 C/ C基因型频率显著低于正常对照组者 ,总的突变 T等位基因频率显著高于对照组。MTHFR T/ T基因型患者血清 Hcy水平显著增高 ,血清叶酸水平显著降低 ,MTHFR C6 77T基因型在不同年龄、地区、流产时间、流产性质患者的分布差异无显著性。流产 3次以上 (包括 3次 )的患者 6 77T/ T基因型、携带 T等位基因的 C/ T+T/ T基因型频率均大于流产次数少于 3次的患者。　结论　 MTH FRC6 77T基因多态性是 URSA发病的遗传风险因素。ObjectiveTo assess the relationship of methylenetetrahydrofolate reductase (MTHFR) C677T genotypes to unexplained recurrent spontaneous abortion (URSA). MethodsThis study included two groups:57 currently non-pregnant women with a history of URSA (URSA group), and 50 currently non-pregnant women with a history of having given birth to at least one live baby and without any history of spontaneous abortion, still-born fetus, placental thrombosis and intrauterine growth retardation(IUGR)(control group).The fasting serum-Hcy was measured with high pressure liquid chromatography. Folic acid and vitamin B_ 12 were detected by radioimmune assay;antiphospholipid antibody (ACA) was detected by ELISA. MTHFR C677T gene polymorphisms were detected by the technique of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsC/C genotype in URSA group was significantly lower than that in control group, the total mutant T allele frequency was significantly higher than that in control group. There was no significant difference in respect of “age, rural area/city, period, primary/secondary abortion” between the genotype distributions of MTHFR C677T. The T/T genotype and C/T+T/T genotypes frequencies for “abortion times≥3” were higher than those for “abortion time <3”.ConclusionMTHFR C677T gene polymorphism is a genetic risk factor for URSA.

关 键 词：MTHFR基因 C677T位点 多态性 自然流产 相关性 

分 类 号：R714.21[医药卫生—妇产科学]