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目的探讨浦东新区周康地区孕前及孕早期妇女叶酸代谢相关基因位点多态性分布与出生缺陷关联性研究。方法选取2014年9月-2016年9月在本院行正常体检的孕妇2 001例作为研究对象,根据患者是否出现出生缺陷分为有出生缺陷的观察组68例,无出现缺陷的对照组1 933例,所有患者均抽血检测血清中5,10-亚甲基四氢叶酸还原酶(MTHFR)基因的A66G位点和甲硫氨酸合成酶还原酶(MTRR)基因的A1298C位点的多态性,探讨其与患者血清中叶酸(FA)、维生素B12(VB12)、同型半胱氨酸(Hcy)水平的关系,并探讨基因多态性与患者出生缺陷的关系。结果MTHFR-677 T/T基因型血清中FA、VB12含量低于其他基因型,而Hcy含量高于其他基因型;MTRR-66 A/A基因型血清中FA、VB12含量低于其他基因型,而Hcy含量高于其他基因型,差异均有统计学意义(P<0.05)。多因素分析提示,MTHFR-677 T/T、MTRR-66 A/A是导致新生儿出生缺陷的独立危险因素。结论 MTHFR-677T/T和MTRR-66A/A的产妇是新生儿出生缺陷的独立危险因素。
Objective To investigate the association between the distribution of folic acid metabolism related gene polymorphisms and birth defects in preconception and early pregnancy in Zhoukang area, Pudong New Area. Methods Twenty-one pregnant women with normal physical examination in our hospital from September 2014 to September 2016 were selected as study subjects. According to whether the patients had birth defects, 68 pregnant women with birth defects and control group without defects 933 cases, all patients were blood test serum 5,10-methylenetetrahydrofolate reductase (MTHFR) gene A66G site and methionine synthase reductase (MTRR) gene A1298C site more To investigate the relationship between the serum levels of folic acid (FA), vitamin B12 (VB12) and homocysteine (Hcy) in patients and to explore the relationship between gene polymorphisms and birth defects in patients. Results The levels of FA and VB12 in serum of MTHFR-677 T / T genotype were lower than those of other genotypes, while the content of Hcy was higher than other genotypes. The contents of FA and VB12 in serum of MTHFR-677 T / T genotype were lower than other genotypes, The Hcy content was higher than other genotypes, the differences were statistically significant (P <0.05). Multivariate analysis suggested that MTHFR-677 T / T and MTRR-66 A / A were independent risk factors for neonatal birth defects. Conclusions MTHFR-677T / T and MTRR-66A / A are independent risk factors for neonatal birth defects.