汉族联合垂体激素缺乏儿童PROP1及PIT-1的基因突变分析  

Mutations in PROP1 and PIT-1 gene in children with combined pituitary hormonal deficiency in Chinese Han ethnic group

作　　者：李颖倩[1] 石岩[2] 邵韶[1] 高力敏[1] 

机构地区：[1]山西医科大学研究生学院,太原030001 [2]山西医科大学第一临床医学院儿科

出　　处：《中国医疗前沿》2011年第4期8-10,共3页China Healthcare Innovation

摘　　要：目的分析汉族联合垂体激素缺乏(CPHD)儿童PROP1及PIT-1基因突变及其特点。方法研究对象为7例汉族CPHD儿童和50例身高正常的汉族成年人。分别取其外周血5ml,提取基因组DNA,应用聚合酶链式反应(PCR)扩增PROP1基因全部3个外显子及PIT-1基因的全部6个外显子及其周围部分内含子。应用正反向引物对PCR产物进行直接DNA序列测。结果在7例汉族CPHD儿童中未发现PROP1及PIT-1基因致病突变;但检测出4个PROP1基因多态性,即27T>C、59A>G、109+3C>A和424G>A。结论 PROP1及PIT-1基因突变不是本研究7例汉族CPHD儿童的主要致病原因。Objective To examine mutations in PROP1 and PIT-1 gene in children with combined pituitary hormonal deficiency（CPHD） in Chinese Han ethnic group.Methods The mutational analysis of the PROP1 and PIT-1 gene was performed in seven children with CPHD in Chinese Han ethnic group,using polymerase chain reaction and DNA sequencing.Results No causative mutations in PROP1 and PIT-1 gene were found.However,four PROP1 polymorphisms were identified,27TC,59AG,109＋3CA and 424GA,in some patients and controls.Conclusions Mutations in PROP1 and PIT-1 gene is not major cause of CPHD in the seven children of Chinese Han ethnic group in this study.

关 键 词：联合垂体激素缺乏 PROP1基因 PIT-1(POU1F1)基因 基因突变 

分 类 号：R392.1[医药卫生—免疫学] R584[医药卫生—基础医学]