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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 analyze the mutations and their characteristics of PROP1 and PIT-1 gene in children with combined pituitary hormone deficiency (CPHD). Methods The subjects were 7 Han Chinese CPHD children and 50 normal Han adults. 5ml of peripheral blood was taken respectively to extract genomic DNA. All 3 exons of PROP1 gene and all 6 exons of PIT-1 gene and their surrounding introns were amplified by polymerase chain reaction (PCR). The PCR products were subjected to direct DNA sequencing using forward and reverse primers. Results No pathogenic mutations of PROP1 and PIT-1 genes were found in 7 Han Chinese children with CPHD. However, four PROP1 gene polymorphisms were detected, ie 27T> C, 59A> G, 109 + 3C> A and 424G> A. Conclusion The mutations of PROP1 and PIT-1 are not the main causative factors in 7 Han Chinese children with CPHD.