【摘要】 目的探讨汉族孕妇胎儿神经管缺陷发生的危险因素并对胎儿神经管缺陷易感性进行分析。方法选取2010年1月至2018年12月滨州市中医医院接收的8 124例汉族孕妇的产检和随访资料作回顾性分析。均检测其外周血单个核细胞TS、MTHFR基因多态性,并统计胎儿神经管缺陷的发生情况。对比胎儿神经管缺陷发生者和未发生者TS、MTHFR基因多态性,并采用Logistic回归分析探讨其与胎儿神经管缺陷易感性的关系。结果所选研究对象TS、MTHFR基因多态性符合Hardy-Weinberg平衡;研究对象中胎儿神经管缺陷发生率为0.38%;发生者TS基因rs3819102位点GG基因型、MTHFR基因C667T位点TT基因型明显高于未发生者,差异具有统计学意义（P<0.05）,发生者TS基因rs3819102位点G等位基因、MTHFR基因C667T位点T等位基因频率明显高于未发生者,差异具有统计学意义（P<0.05）;TS基因rs3819102位点突变、MTHFR基因C667T位点突变、高龄、维生素B₁₂缺乏、叶酸缺乏、药物滥用、长期在高温环境中工作、孕早期持续高热均可是胎儿神经管缺陷的危险因素（P<0.05）。结论汉族孕妇TS基因rs3819102位点突变、MTHFR基因C667T位点突变均可增加胎儿神经管缺陷易感性,且高龄、维生素B₁₂缺乏等也均是危险因素。更多还原

【Abstract】 Objective To investigate the risk factors and susceptibility of neural tube defects in Han nationality pregnant women. Methods The antenatal examination and follow-up data of 8124 Han ethnic group pregnant women from January 2010 to December 2018 were retrospectively analyzed,and the polymorphisms of TS and MTHFR genes in their peripheral blood mononuclear cells were detected,and the incidence of fetal neural tube defects was statistically analyzed. The polymorphism of TS and MTHFR genes in the patients with and without neural tube defects was compared,and the relationship between them and the susceptibility to fetal neural tube defects was investigated by Logistic regression analysis. Results The genetic polymorphisms of TS and MTHFR were in line with Hardy-Weinberg balance. The incidence of fetal neural tube defects was 0. 38%. GG genotype of TS gene at rs3819102 and TT genotype of MTHFR gene at C667 T were significantly higher than those of the non-occurrence group,with statistically significant differences（ P < 0. 05）. The frequency of G allele of MTHFR gene at rs3819102 and T allele of MTHFR gene at C667 T were significantly higher than those of the non-occurrence group（ P <0. 05）. Mutations in TS gene RS3819102 and MTHFR gene C667 T,advanced age,vitamin B₁₂ deficiency,folic acid deficiency,drug abuse,long-term exposure to high temperature,and persistent high fever in early pregnancy were all risk factors for fetal neural tube defects（ P < 0. 05）. Conclusions The mutation of TS gene RS3819102 and MTHFR gene C667 T in pregnant women of Han ethnic group can increase the susceptibility to fetal neural tube defects,and the elder age and vitamin B₁₂ deficiency are also risk factors.更多还原