TGF-α基因多态性及叶酸与非综合征性唇腭裂关系  

Association of TGF-α gene polymorphism and folic acid supplementation with nonsyndromic cleft lip with or without cleft palate

作　　者：来庆国[1,2] 袁奎封[1] 罗圣磊[1] 杨中军[1] 徐欣[2] 

机构地区：[1]山东大学第二医院口腔科,济南250033 [2]山东大学口腔医学院

出　　处：《中国公共卫生》2009年第6期756-757,共2页Chinese Journal of Public Health

基　　金：山东省自然科学基金项目(Q2007C01);美国国立卫生院资助(R01DE1458101)

摘　　要：目的研究山东汉族人转化生长因子-α(TGF-α)基因多态性及叶酸补充与非综合征性唇腭裂的关系。方法通过问卷调查获得所有研究对象母亲孕前孕期叶酸补充等资料。应用多聚酶链反应(PCR)结合限制性酶切方法,确定199例非综合征性唇腭裂患者与203名正常人的基因型。将基因型与叶酸补充因素进行分析。结果非综合征性唇腭裂患者TGF-α的C2等位基因频率明显高于正常对照组,差异有统计学意义(P<0.05);孕前孕期不补充叶酸的孕妇发生非综合征性唇腭裂增多,差异有统计学意义(P<0.05)。C1C2基因型与叶酸缺乏因素有交互作用。结论TGF-α基因的突变及孕期叶酸缺乏与汉族人非综合征性唇腭裂的发生有相关性。含有C2等位基因的个体对孕期叶酸缺乏的危险因素更为敏感。Objective To study the association of transforming growth factor alpha （TGF-α） gene polymorphism and folic acid supplementation in Hart nationality with nonsyndromic cleft lip with or without cleft palate （NSCL/P）. Methods Data related to folic acid supplementation during the periconceptional period were gained through investigation of patients＇ mothers. Polymerase chain reaction combined with restrict enzyme digestion was used to detect the target gene variation in 199 patients with NSCL/P and 203 healthy controls. Analysis was carried on the genotype and folic acid supple- mentation. Results The C2 allele frequency in patients with NSCL/P was significantly higher than that of in healthy con- trois. There was a significant increase of NSCL/P in infants with the mothers without folic acid supplementation during the pregnatncy. There was an interaction between ClC2 genetype and folic acid supplementation. Condusion TGF-α gene pol- ymorphism is closely associated with NSCL/P. Folio acid supplementation during the periconceptional period is associated with the occurrence of NSCL/P. Individuals containing C2 allele are more sensitive to fofic acid deficiency.

关 键 词：非综合征性唇腭裂 转化生长因子-Α 基因多态性 叶酸 

分 类 号：Q344.14[生物学—遗传学]