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目的研究环境因素及汉族人转化生长因子-α(TGF-α)基因多态性与非综合征性唇腭裂(NSCL/P)的关系。方法采用病例对照研究的方法,选择169例NSCL/P患者与198例正常人为研究对象,通过问卷调查获得所有研究对象母亲孕早期感染史、孕期服药史及叶酸补充等资料,通过聚合酶链反应及限制性酶切方法检测TGFαC2位点的基因多态性,研究结果进行统计学分析。结果 NSCL/P患者中C2等位基因频率比正常对照组明显增高(55%比31%),其差异有统计学意义(P<0.05)。两组比较,病例组其母亲孕早期感染、孕期服药及不补充叶酸的发生率亦明显高于对照组(P<0.05)。C1C2基因型与孕早期感染、孕期服药和叶酸补充3个因素有交互作用。结论 TGF-α基因突变及孕早期感染史、孕期服药史、未补充叶酸等环境因素与汉族人NSCL/P的发生有关;含有TGFαC2等位基因的个体对孕早期感染、孕期服药和叶酸缺乏3个危险因素更为敏感。
Objective To study the relationship between environmental factors and TGF-α gene polymorphism and non-syndromic cleft lip and palate (NSCL / P) in Han Chinese. Methods A case-control study was conducted in 169 NSCL / P patients and 198 normal subjects. All the subjects were tested for the history of pregnancy in the first trimester, the medication history during pregnancy and the folic acid supplementation by questionnaires. And restriction enzyme digestion method to detect TGFαC2 gene polymorphism, the results were statistically analyzed. Results The frequencies of C2 allele in NSCL / P patients were significantly higher than those in normal controls (55% vs. 31%) (P <0.05). Compared with the two groups, the incidence of infection of mothers during the first trimester of pregnancy, medication during pregnancy and non-supplementation with folic acid were also significantly higher in the case group than in the control group (P <0.05). C1C2 genotype and early pregnancy infection, pregnancy medication and folic acid supplementation three factors have interaction. CONCLUSIONS: TGF-α gene mutation and the infection history in the first trimester, the medication history during pregnancy and the absence of folic acid are related to the occurrence of NSCL / P in Han population. A more sensitive risk factors.