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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 study the distribution of folic acid metabolism-related gene polymorphisms in Han women in southern Zhejiang and to explore its relationship with Down’s Syn-drome (DS). Methods 84 mothers (observation group) and 120 mothers (control group) of fertile DS children were enrolled in this study. Methyltetrahydrofolate reductase (MTHFR) gene C677T , A1298C site; methionine synthase (MTR) gene A2756G site single nucleotide polymorphisms. Results There was no significant difference between MTHFR 677 T gene, CT, TT genotype, MTHFR 1298 C gene, AC, CC genotype, MTR 2756 G gene and AG genotype frequency and control group (P> 0.05). No significant difference was found between the three genotype frequencies in the two groups (OR = 0.692, P> 0.05). Conclusions The MTHFR C677T, FTHFR A1298C and MTR A2756G genotypes are not the risk factors of DS in the Han women in southern Zhejiang. The combined frequency of the three genotypes does not increase the risk of DS.