| 汉族联合垂体激素缺乏儿童PROP1及PIT-1的基因突变分析 |
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| 引用本文： | 李颖倩,石岩,邵韶,高力敏.汉族联合垂体激素缺乏儿童PROP1及PIT-1的基因突变分析[J].中国医疗前沿,2011,6(4):8-10. |
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| 作者姓名： | 李颖倩 石岩 邵韶 高力敏 |
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| 作者单位： | 李颖倩,邵韶,高力敏(山西医科大学研究生学院,太原,030001);石岩(山西医科大学第一临床医学院儿科) |
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| 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。
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| 关 键 词： | 联合垂体激素缺乏 PROP1基因 PIT-1（POU1F1）基因 基因突变 |
Mutations in PROP1 and PIT-1 gene in children with combined pituitary hormonal deficiency in Chinese Han ethnic group |
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| LI Ying-qian,SHI Yan,SHAO Shao,et al..Mutations in PROP1 and PIT-1 gene in children with combined pituitary hormonal deficiency in Chinese Han ethnic group[J].China Healthcare Innovation,2011,6(4):8-10. |
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| Authors: | LI Ying-qian SHI Yan SHAO Shao |
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| Institution: | LI Ying-qian,SHI Yan,SHAO Shao,et al.Department of Pediatrics,First Hospital,Shanxi Medical University,Shanxi 030001,China |
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| Abstract: | 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,27T>C,59A>G,109+3C>A and 424G>A,in some patients and controls.Conclusio... |
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| Keywords: | Combined pituitary hormonal deficiency PROP1 gene PIT-1(POU1F1) gene Mutation |
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