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C677T and A1298C mutation of the methylenetetrahydrofolate reductase gene in unexplained recurrent spontaneous abortion
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF OBSTETRICS AND GYNECOLOGY
- Issue:
- 4
- DOI:
- 10.3760/j.issn:0529-567X.2004.04.007
- Key Word:
- 流产,习惯性;胺氧化还原酶类;多态性,限制性片段长度
Abstract： 目的探讨5,10-亚甲基四氢叶酸还原酶基因C677T和A1298C位点突变与原因不明复发性流产(unexplained recurrent spontaneous abortion, URSA)易感因素的相关性.方法采用PCR-限制性片段长度多态性方法,检测147例原因不明复发性流产患者(URSA组)和82例有正常妊娠史的妇女(对照组)血中亚甲基四氢叶酸还原酶基因C677T和A1298C位点突变.结果 (1)C677T的3种基因型在URSA组和对照组总体分布存在显著性差异(P=0.012),其中URSA组:基因型CC占33.3%,CT占53.1%,TT占13.6%,对照组:基因型CC占52.4%,CT占51.5%,TT占6.1%.两组677CC基因表达差异有显著性(P=0.005),URSA 组C和T等位基因分别为40.1%、59.9%,两组基因分布情况比较,差异有显著性(P<0.005);(2)A1298C的3种基因型在URSA组和对照组中总体分布情况比较,差异无显著性,1298AA/AC/CC基因型和A/C等位基因频率比较,差异无显著性(P>0.005);(3)C677T/A1298C连锁基因分析显示,8种连锁基因型中,URSA组677CC/1298AA表达频率显著降低,而677(CT+TT)/1298CC仅在URSA组中表达.结论 URSA与亚甲基四氢叶酸还原酶基因C677T和A1298C位点突变有关.
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