MTHFRC677T基因多态性在唐氏综合症发病机制中的作用探讨  

The role discussion of MTHFRC677T gene polymorphism in down syndrome pathogenesis

作　　者：赵旭亮[1] 赵磊[2] 蔡心安[1] 

机构地区：[1]解放军105医院检验科,安徽合肥230031 [2]军事医学科学院基础研究所,北京100850

出　　处：《医学检验与临床》2017年第5期41-43,共3页Medical Laboratory Science and Clinics

摘　　要：目的：探讨MTHFRC677T基因多态性在唐氏综合症（Down＇s syndrome,DS）发病机制中的作用.方法：收集DS患儿母亲血液标本一共80份,120份正常新生儿母亲血液标本,采用PCR扩增及DNA测序法检测亚甲基四氢叶酸还原酶MTHFRC677T、MTHFRA1298基因多态性.分析MTHFRA1298C和C677T基因型、 等位基因频率分布特点、MTHFRA1298（A/C＋C/C）和C677（T/T）基因型联合作用.结果：①经Hardy-Weinberg平衡检验病例组和对照组各基因型达到遗传平衡（P〉0.05）,具有群体代表性.病例组MTHFR 677T和A1298C等位基因频率均高于对照组,但差异不显著（P〉0.05）.②MTHFR 677（T/T）/1298（C/C＋A/C）联合基因型显著地增加DS发生风险（OR（95%,CI）=8.45（0.91-80.00）,P〈0.05）.结论：MTHFR C677T位点不是汉族妇女DS的风险因素,但MTHFR两个位点变异联合分析可能是DS发生的风险因素,不能排除叶酸代谢酶基因多态在DS发生中的作用.Objective： To study the role ofMTHFRC677T gene polymorphism in down syndrome （DS） pathogenesis. Methods： A total of 80 blood specimens were collected from mothers of DS children, and 120 normal neonatal mother blood samples were collected. PCR amplification and DNA sequencing method were applied to detect methylenetetrahydrofolate reductase MTHFRC677T, MTHFRA1298 gene polymorphism. MTHFRA1298C and C677T genotype, allele frequency distribution, MTHFRA1298 （A/C ＋ C/ C） and C677 （T/T） genotype combination were analyzed. Results： （1） the Hardy Weinberg equilibrium test showed genetic equilibrium between experimental group and control group in each gene genotype （P〉0.05） , with a group representation. In the experimental group, the allele frequencies of MTHFR C677T and A1298C and were higher than those in control group, but no significant difference （P〉 0.05） . （2） MTHFR. 677 （T/T） / 1298 （C/C ＋ A/C） gene combination significantly increased the risk of DS occurrence （OR （95% C1） = 8.45 （0.91-80.00） , P 〈 0.05） . Conclusion： MTHFR C677T site is not a risk factor of DS in han Chinese women, but the conjoint analysis of MTHFR two variant may be risk factor for DS occurrence, so the role of folate metabolism enzyme gene polymorphism cannot be ruled out in DS occurrence.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 唐氏综合症 发病机制 

分 类 号：R735.7[医药卫生—肿瘤]