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Relationship between genetic polymorphism of homocysteine metabolism enzyme and unexplained repeated spontaneous abortion
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 3
- DOI:
- 10.3760/cma.j.issn.1007-9408.2005.03.005
- Key Word:
- 流产,习惯性;胱硫醚β合酶;5-甲基四氢叶酸-高半胱氨酸S-甲基转移酶;亚甲基四氢叶酸还原酶(NADPH);多态现象(遗传学)
Abstract： 目的探讨胱硫醚β合成酶(cystathionine β synthase,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 reductase,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.
- [1]汪希鹏,林其德,马政文,等.原因不明复发性流产患者血中亚甲基四氢叶酸还原酶基因C677T和A1298C位点突变的研究[J].2004,(4).
- [2]Lucock M,Yates Z.Methionine synthase polymorphism A2756G is associated with susceptibility for thromboembolic events and altered B vitamin/thiol metabolism.[J].2002,87(7).
- [3]Arie Lissak,Avi Sharon,Oren Fruchter,etc.Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss[J].1999,181(1).
- [4]Hawe E,Gudnason V,Humphries SE,etc.Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men.[J].2001,85(1).
- [5]Zhang G,Dai C.Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.[J].2001,104(3).
- [6]M, Gaustadnes,L A, Kluijtmans,O K, Jensen,etc.Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.[J].1998,431.
- [7]S?awomir, Sztenc.[Hyperhomocysteinemia and pregnancy complications].[J].2004,75(4).