叶酸代谢相关酶基因多态性与唐氏综合征发生易感性的关系  

Relationship between the polymorphisms of MTHFR and MTRR gene and the susceptibility of delivering a child with Down syndrome

作　　者：梁蓉[1] 郁卫东[2] 杜军保[3] 杨丽君[1] 尚美[1] 宋眆[4] 王林 郭静竹[1] 

机构地区：[1]北京大学人民医院儿科,100044 [2]北京大学人民医院中心实验室,100044 [3]北京大学第一医院儿科,100034 [4]首都儿科研究所遗传室,北京市100020 [5]国家计生委遗传所,北京市100081

出　　处：《实用医学杂志》2006年第12期1372-1375,共4页The Journal of Practical Medicine

基　　金：国家重点基础发展规划项目基金支持项目(编号:2001CB510303)

摘　　要：目的:探讨参与叶酸代谢的亚甲基四氢叶酸还原酶(MTHFR)基因C667T和甲硫氨酸合成还原酶(MTRR)基因A66G基因多态性与中国汉族母亲生育唐氏综合征(Downsyndrome,DS)患儿易感性的关系。方法:生育过DS患儿的母亲30例,对照母亲70例,MTHFR、MTRR基因C667T及A66G基因座多态性采用聚合酶链反应———限制性片段长度多态性的方法检测。结果:携带MTHFR以及MTRR突变基因型的母亲并不增加孕DS的可能性,两个基因的联合作用分析也表明同时携带MTRR突变位点和MTHFR任一突变位点并不增加孕DS的可能性。MTHFR和MTRR突变基因型的分布在病例组和对照组间差异没有显著性(P>0.05)。结论:在本研究的人群中,MTRR基因A66G基因座多态性以及MTHFR基因C667T基因座多态性并不增加母亲孕DS的危险性,MTHFR以及MTRR基因突变位点并不是母亲生育DS患儿的危险因素。Objective To study the relationship between the polymorphisms of methylenetetrahydrofolate reductase （MTHFR） gene C667T and methioniae synthase reductase （MTRR） gene A66G involving folate metabolism and the susceptibility of delivering a child with DS in the Chinese Han ethnic females. Methods This study included two groups： mothers who delivered a child with DS （n=30） and the controlled mothers （n=70） . The polymorphisms of MTHFR gene C667T and MTRR gene A66G were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The risk of having a child with DS By a pregnant female with mutation genotype in MTHFR and MTRR did not increase. From the analysis on the combined action of the two genes, it also showed that there was no increased risk of having offspring with DS by a female carrier with a MTRR mutation site and any MTHFR mutation site. There was no significant difference in the distribution of MTHFR and MTRR mutation genes between the case group and the control group （P 〉 0.05）. Conclusion The polymorphisms of MTRR and MTHFR don＇t increase the risk of having a child with ITS by a pregnant female, and the MTRR and MTHFR mutation sites are not the risk factor for a pregnant female to have a child with DS.

关 键 词：唐氏综合征 亚甲基四氢叶酸还原酶 叶酸 甲硫氨酸合成还原酶 多态性 

分 类 号：R725.8[医药卫生—儿科]