低磷酸盐血症性佝偻病PHEX基因突变分析  

Mutation analysis of the PHEX gene in hypophosphatemic rickets

作　　者：曹丽华[1] 麻宏伟[2] 王述森[1] 王琳[2] 罗阳[1] 

机构地区：[1]中国医科大学基础医学院医学基因组学教研室,教育部医学细胞生物学重点实验室,沈阳110001 [2]中国医科大学附属盛京医院发育儿科,沈阳110004

出　　处：《国际遗传学杂志》2011年第3期123-126,共4页International Journal of Genetics

基　　金：基金项目：国家“863”计划基金资助（2007AA022440）

摘　　要：目的鉴定一个低磷酸盐血症性佝偻病家系的致病基因突变。方法采集患者外周静脉血，提取基因组DNA。PCR扩增PHEX基因22个外显子及外显子／内含子交界区序列，进行DNA测序分析。结果DNA测序结果表明患儿PHEX基因第20内含子受体位点突变，IVS20—1G〉T。结论PHEX基因新剪接突变IVS20—1G〉T导致该家系低磷酸盐血症性佝偻病的发生。Objective The aim of this study was to identify the disease- causing genetic alteration of PHEX gene in a Chinese hypophosphatemic rickets （ HR ） family. Methods Genomic DNA was extracted from white blood cells by standard methods. All 22 coding exons and their flanking intronic sequences of PHEX gene were PCR-amplified, purified, and subjected to DNA sequencing. Results We identified an acceptor site mutation IVS20-1 G 〉 T in PHEX gene in the Chinese HR family. Conclusion This study confirms the relationship between the novel splicing mutation IVS20-1 G 〉 T of the PHEX gene and the clinical findings of this HR family.

关 键 词：低磷酸盐血症性佝偻病 PHEX 受体位点 剪接突变 

分 类 号：R730.26[医药卫生—肿瘤]