亚甲基四氢叶酸还原酶G1793A多态性与反复妊娠丢失相关性研究  

To study the relationship of methylenetetrahydrofolate reductase gene polymorphism G1793A with recurrent pregnancy loss.

作　　者：任景芳[1] 郝琦蓉[1] 韩轩茂[1] 刘秀娥[1] 王学峰[2] 丁秋兰[2] 杨林花[1] 

机构地区：[1]山西医科大学第二医院血液科,030001 [2]上海第二医科大学附属瑞金医院

出　　处：《中国优生与遗传杂志》2006年第3期67-68,70,共3页Chinese Journal of Birth Health & Heredity

基　　金：山西省归国留学人员基金资助(2005-069)

摘　　要：目的检测反复妊娠丢失妇女中血浆同型半胱氨酸水平(homocyste ine,Hcy)及亚甲基四氢叶酸还原酶(m ethylenetetrahydrofolate reductase,MTHFR)G1793A的多态性.方法选择不明原因的反复妊娠丢失达2次或3次以上妇女71例,有正常分娩史妇女93例作为对照组。用全自动荧光免疫分析仪测定同型半胱氨酸水平。MALD I-TOF质谱检测技术检测MTHFR G1793A的多态性。结果妊娠丢失妇女同型半胱氨酸水平明显高于正常对照组,分别为(14.58±8.45)μmol/L和(7.48±2.95)μmol/L,P<0.05。G1793A等位基因突变在患者组和对照组分别为22%,3.8%,差异有显著性(P<0.05,RR 3.48)MTHFR G1793A多态性的同型半胱氨酸水平无显著差异。结论反复妊娠丢失与高半胱氨酸血症密切相关,在中国MTHFR G1793A突变可能是反复妊娠丢失独立的危险因素。但MTHFR G1793A突变与高半胱氨酸血症未证实有相关性。Objective ： The objective of this study was to examine plasma homoeysteine levels and methylenetetrahydrofolate reductase （MTHFR） gene polymorphism G1793A in recurrent pregnancy loss. Methods： 71 eases with the history at least two or more pregnancy loss and 93 fertile parous control women without pregnancy loss. The levels of plasma homocysteine in two group people were assessed by automatic fluorescence imrnunoassays analysis and MTHFR gene polyraorphism G1793A by MALDI - TOF technique. Results ： The levels of plasma homoeysteine is higher in women with pregnancy loss than that in control group [ （ 14. 58± 8. 45 ） μmol/ L versus （7.48 ±2.. 95） μmol/L] . The prevalence of MTHFR G1793A allele were higher in the study group than the control group （22% versus 3. 8%, respectively）, which was statistically significant （P 〈 0. 05, RR 3.48） . The differences of plasma homocysteine level are not found in MTHFR gene polymorphism G1793A. Conclusion： Plasma hyperhomoeysteine levels were found to be associated with recurrent pregnancy loss. MTHFR G1793A may be an independence risk factor for recurrent pregnancy loss in China. The relation of MTHFR G1793A with plasma hyperhomoeysteine is not found in the study.

关 键 词：妊娠丢失 同型半胱氨酸 亚甲基四氢叶酸还原酶 多态性 

分 类 号：R714.2[医药卫生—妇产科学]