中国人MTHFR基因多态性与神经管畸形遗传易感性

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.

MTHFR Gene Polymorphism and NTD Susceptibility in Chinese