母亲叶酸代谢相关基因多态性与唐氏综合征发生的关系

Genetic polymorphisms involved in folate metabolism as maternal risk factors for Down syndrome

目的研究叶酸代谢相关基因多态性在浙南地区汉族妇女中的分布,探讨其与唐氏综合征(Down's Syn-drome,DS)发生的关系。方法对84例已生育DS患儿的母亲(观察组)和120例生育过正常儿童的母亲(对照组)采用PCR扩增及DNA测序法检测亚甲基四氢叶酸还原酶(MTHFR)基因C677T、A1298C位点;甲硫氨酸合成酶(MTR)基因A2756G位点单核苷酸多态性。结果 MTHFR 677 T基因及CT、TT基因型、MTHFR 1298 C基因及AC、CC基因型、MTR 2756 G基因及AG基因型频率观察组与对照组比较均无统计学意义(P>0.05)。三个位点基因型频率联合分析两组也不存在统计学意义(OR=0.692,P>0.05)。结论浙南地区汉族妇女MTHFR C677T、FTHFR A1298C、MTR A2756G基因型不是DS发生的风险因素;三个基因型的联合频率也未见增加DS发生的风险。

Objective：To investigate the relationships between gene polymorphism and the maternal risks for Down syndrome in Chinese Han women from Zhejiang province.Methods： A case-control study was conducted.The polymorphism of C677T,A1298C in methylenetetrahydrofolate reductase（MTHFR） and A2756G in methionine synthase（MTR） were analysed in 84 mothers of children with DS（the cases）and 120 matched mothers（the controls） by Polymerase Chain Reaction（PCR） and DNA sequencing.Results： There were no significant differences for the frequencies of MTHFR 677 T and CTTT,MTHFR 1298 C,AC,CC and MTR 2756 G,AA,AG between two groups（P0.05）.Also there were no significant differences with combined frequency of three loci genotype between two groups（OR =0.692,P0.05）.Conclusion： MTHFR C677T,MTHFR A1298C,MTR A2756G and the combined frequencies were not the risks factors of DS in southern zhejiang China women.