遗传 ›› 2000, Vol. 22 ›› Issue (4): 236-238.

• 论文 • 上一篇    下一篇

中国人MTHFR基因多态性与神经管畸形遗传易感性

朱慧萍;李竹 ZHU Hui-ping;LI Zhu   

  1. 北京医科大学保健流行病学研究室,北京 100083 Department of Health Care Epidemiology,Beijing Medical University,Beijing 100083,China
  • 收稿日期:1900-01-01 出版日期:2000-08-10 发布日期:2000-08-10

MTHFR Gene Polymorphism and NTD Susceptibility in Chinese

  • Received:1900-01-01 Online:2000-08-10 Published:2000-08-10

摘要: 目的:应用分子生物学方法进行遗传流行病学研究, 探讨MTHFR基因多态性在神经管畸形的遗传易感性中的作用。方法:应用PCR?RFLP方法检测MTHFR热敏感性基因型;对18个NTD核心家庭进行以父母为对照的病例对照研究,计算TDT和HHRR;另外对31例NTD胎儿和62例正常成年人进行的成组病例对照研究,计算MTHFR纯合突变对NTD的比值比。结果:核心家庭分析结果:比值比OR=3.2,95%CI=1.120~11.169;TDT(χ2)=5.762,P<0.05,HHRR(成组χ2)=6.727,P<0.05;胎儿MTHFR纯合突变对NTD的相对危险度OR=3?21,P<0?05。结论:研究结果说明,突变等位基因在神经管畸形核心家庭中存在突变基因(T)的遗传失衡现象,胎儿MTHFR基因第677位核苷酸的多态性是中国人NTD遗传易感性因素之一。
Abstract:The objective of the study is to clarify the effect of MTHFR thermolabile polymorphism on genetic susceptibility of NTD in Chinese population.MTHFR genotypes were detected using PCR-RFLP analysis; 18 NTD nuclear families were analysed as case-parental control study,from which Transmitted Disequillibrium Test(TDT) and Haplotype-based Haplotype Relative Risk (HHRR) were calculated; 31 NTD fetuses and 62 adult controls were analysed for calculation of OR of homozygotic MTHFR.The results are as follow:Nuclear family analysis: OR=3.2( 95%CI=1.120~11.169);TDT(paired χ2)=5.762,P<0.05,HHRR(χ2)=6.727,P<0.05;homozygotic MTHFR of fetus vs adult control: OR=3.21,P<0.05. The 677th allele of MTHFR is abnormally transmitted in NTD nuclear families.Homozygotic MTHFR of the fetus may be a genetic factor of NTD in China.

关键词: 病例-父母对照研究 Key word, 5, 神经管缺损(NTD), 遗传易感性, 10-亚甲基四氢叶酸还原酶(MTHFR)