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亚甲基四氢叶酸还原酶基因多态性与不明原因的重复性自然流产的相关性研究 被引量:16

Study on Correlation Between MTHFR Polymorphisms and Unexplained Repeated Spontaneous Abortion
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摘要 目的 :探讨同型半胱氨酸代谢酶基因亚甲基四氢叶酸还原酶 (MTHFR)基因多态性C6 77T、A12 98C及其联合基因型与不明原因重复性流产 (URSA)的关系。方法 :运用聚合酶链反应 -限制性片段长度多态性技术检测MTHFRC6 77T、A12 98C基因多态性。结果 :①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者。MTHFRC6 77T基因型分布与不同年龄、地区、流产时间、流产性质无关 ,与流产次数显著相关。URSA组MTHFRA12 98C三种基因型频率与对照组相比差异无显著性 ,与患者不同临床特征无明显关联。A12 98C杂合子联合C6 77T杂合子基因型发生URSA的危险性无显著增高。结论 :MTHFRC6 77T基因多态性是URSA发病的遗传风险因素 ,而A12 98C基因多态性不是URSA发病的危险因素。 Objective:To study the correlation on MTHFR C677T,MTHFR A1298C,and the combined genotype of them with unexplained repeated spontaneous abortion(URSA).Methods:Gene polymorphisms were detected by the technique of polymerase chain reaction-restriction fragment length polymorphism.Results:C/C gene in URSA was significantly lower than that in normal control.The total mutant T allele frequency was significantly higher than that in control group.There had no significant difference in ages,rural areas or cities,period,and primary or secondary abortions with MTHFR C677T polymorphism.T carrier frequency was related to abortion times.There was no significant difference in the genotypes of MTHFR A1298C in URSA.The combined genetypes of heterozygotes of A 1298C and C677 TC/T caused a relative risk for URSA.Conclusions:MTHFR C677T gene polymorphism not A1298C is the genetic risk factor for URSA.
出处 《实用妇产科杂志》 CAS CSCD 北大核心 2003年第3期179-180,共2页 Journal of Practical Obstetrics and Gynecology
关键词 习惯性流产 亚甲基四氢叶酸还原酶 基因多态性 O677T A1298C Abortion Habitual Methylenetetrahydrofolate reductase
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  • 1李克深,郑冬梅,薛雅丽,孙延芝,陈黎明,郭劲柏,张贵寅,李璞.MTHFR基因C677T多态与神经管缺陷及先兆子痫关系的研究[J].中华医学遗传学杂志,2000,17(2):76-78. 被引量:20
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