山东临淄地区女性叶酸代谢相关基因位点多态性与胚胎停育相关性研究

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摘要目的分析山东省临淄地区女性叶酸代谢相关基因位点多态性与胚胎停育相关性。方法以在本院进行孕期检查女性作为研究对象,确诊为胚胎停育的484例女性入组病例组,选取检测时期相匹配的已怀孕女性836例入组对照组。采用荧光定量PCR,对入组妇女的DNA进行分型检测,通过统计学分析两组女性MTHFR C677T、A1298C及MTRR A66G位点多态性分布特点。结果两组基因分布均符合Hardy-weinberg平衡定律,但经比较分析,病例组的基因型分布情况为MTHFR C677T CC型12.0%, CT型46.3%, TT型41.7%;对照组CC型12.2%,CT型43.8%,TT型44.0%,两组差异无统计学意义。病例组中C、T的频率分别为35.1%、64.9%,对照组C、T的频率分别为34.1%、65.9%,两组差异无统计学意义。MTHFR A1298C位点基因型分布情况,病例组AA型74.8%,AC型 24.0%,CC型1.2%;对照组AA型76.8%,AC型21.7%,CC型1.6%,两组差异无统计学意义。病例组中A、C的频率分别为86.8%、13.2%,对照组分别为87.6%、12.4%,两组差异无统计学意义。MTRR A66G位点,病例组MTRR A66G位点AA型61.8%,AG型32.0%,GG型6.2%;对照组中AA型61.8%,AG型34.4%,GG型6.3%,两组差异无统计学意义。等位基因G的频率病例组为22.2%,对照组为23.6%,两组差异无统计学意义。病例组基因型构成与对照组比较,差异均无统计学意义。结论两组基因多态性分布无显著差异,叶酸代谢相关基因是否为胚胎停育的风险因子各地研究结论不一致,可能需综合评估地域、民族、生活环境等诸多因素。

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	于玲
	鲁衍强
	汤萍
	刘彩霞
	杨琦

关键词 ：叶酸代谢障碍, 胚胎停育, 基因多态性, 5,10-亚甲基四氢叶酸还原酶, 甲硫氨酸合成酶还原酶

Abstract：Objective To investigate the association between genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C and methionine synthase reductase (MTRR) A66G with embryo growth arrest in Chinese Han women in Linzi District of Zibo City.Methods The case group included 484 cases with embryo growth arrest and 836 women with normal pregnancy. Genomic DNA was extracted from mucosal epithelium. The polymorphisms of MTHFR and MTRR were detected by fluorescence quantitative PCR technology. The genotype frequencies of the case group and control group were analyzed and compared.Results Both the case group and the control group complied with the Hardy-Weinberg law. The genotype frequency of MTHFR C677T, MTHFR A1298C and MTRR A66G were not significantly different between the two groups.Conclusion This study suggests that the polymorphisms of genes involved in folate metabolism may not be associated with the risk of embryo growth arrest.

Key words： Folate biosynthetic pathway Gene polymorphism MTHFR MTRR

收稿日期: 2016-04-25

基金资助:中国孕前及孕早期妇女叶酸代谢障碍相关基因位点分布与出生缺陷干预研究(FY-ZX-ZD-0076)

通讯作者: 汤萍(tangping@genechina.com)

引用本文:

于玲, 鲁衍强, 汤萍, 刘彩霞, 杨琦. 山东临淄地区女性叶酸代谢相关基因位点多态性与胚胎停育相关性研究[J]. 中国生育健康杂志, 2016, 27(6): 534-536.
YU Ling, LU Yanqiang, TANG Ping, Liu Caixia, YANG Qi. Association of genetic polymorphisms of MTHFR and MTRR with embryo growth arrest in women in Linzi. Chinese Journal of Reproductive Health, 2016, 27(6): 534-536.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2016/V27/I6/534

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