宋妙丽,朱耿超,魏佳玲,卢旬
SONG Miaoli,ZHU Gengchao,WEI Jialing,LU Xun

• 1:南京医科大学附属苏州医院核医学科

摘要(Abstract)：

目的:研究苏州地区育龄妇女亚甲基四氢叶酸还原酶(MTHFR)C677T基因分布。方法:以苏州地区1 887例育龄女性为研究对象,通过PCR基因芯片技术检测MTHFR C677T基因,统计分析该地区MTHFR C677T基因多态性的分布特征,并与已报道的其他地区进行比较。结果:苏州地区女性的MTHFR C677T基因CC型、CT型和TT型频率分别为29.96%,48.41%和21.67%,以CT型为主,不同年龄段妇女MTHFR C677T基因无差异(P>0.05);与文献报道其他地区比较,苏州地区与镇江MTHFR基因多态性分布差异无统计学意义(χ~2=2.46,P>0.05),与其他地区比较,差异均有统计学意义(P<0.05)。结论:苏州地区女性MTHFR C677T基因多态性分布具有地域特异性,以CT型为主;孕前进行MTHFR C677T基因突变检测可指导该地区孕龄妇女合理补充叶酸。
Objective: To investigate the polymorphism distribution of methylenet-Etra Hydrofolate reductase gene( MTHFR) among women at childbearing age in Suzhou. Methods: Samples of 1887 childbearing aged women from Suzhou were collected and the genomic DNA was isolated. The detections of MTHFR C677 T genes were conducted with PCR gene chip technology. The distribution of the gene polymorphism was analyzed and compared with some reported regions of China. Results: The frequencies of MTHFR gene CC,CT and TT types were 29. 96%,48. 41% and 21. 67% respectively in Suzhou. There was no significant difference upon age among the women in Suzhou. The genepolymorphism of MTHFR among the women in Suzhou was statistically different from some other regions of China except Zheng jiang. Conclusions: The genepolymorphism of MTHFR C677 T in Suzhou has regional characteristics. CT is the main type in Suzhou. Detecting MTHFR C677 T gene mutation has a guiding significance for adding the right amount of folic acid for childbearing age women in Suzhou.

关键词(KeyWords)： 妇女;基因型;亚甲基四氢叶酸还原酶;多态性;地域;苏州
women;gene type;methylenetetrahydrofolate reductase;polymorphism;territory;Suzhou

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 宋妙丽,朱耿超,魏佳玲,卢旬
SONG Miaoli,ZHU Gengchao,WEI Jialing,LU Xun

DOI: 10.19367/j.cnki.1000-2707.2017.07.015

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