抗维生素D佝偻病PHEX基因突变分析  

Mutational Analysis of PHEX Gene in Vitamin D Resistant Rickets

作　　者：王静[1] 金春莲[1] 任梅宏[1] 林长坤[1] 武盈玉[2] 孙开来[1] 

机构地区：[1]沈阳中国医科大学基础医学院医学遗传学教研室,110001 [2]中国医科大学第二临床医院儿科,沈阳110001

出　　处：《国际遗传学杂志》2008年第4期251-253,276,共4页International Journal of Genetics

基　　金：国家十五科技攻关项目（2004BA720A04）

摘　　要：目的研究10例家族性及非家族性（散发）抗维生素D佝偻病患者PHEX基因突变，初步探讨我国东北地区抗维生素D佝偻病患者PHEX基因突变的类型。方法应用常规饱和酚-氯仿法提取基因组DNA，聚合酶链反应扩增PHEX基因22个外显子序列，DGGE方法结合测序检测突变。结果3名患者检测出PHEX基因突变：患者（H11）检测出16外显子上游46bp（T〉C）突变；患者（H1，H2）检测出18外显子1861（C〉T）（GIn621X）的无义突变。结论PHEX基因突变是抗维生素D佝偻病的致病原因。检测到的这两种PHEX基因突变为国际上首次报道的新的突变类型。Objective To perform the mutational analysis of the PHEX gene in 10 patients with fa- milial and nonfamilial （sporadic） forms of vitamin D resistant rickets. Methods After the amplification of 22 exons of PHEX gene by polymerase chain reaction , mutations were detected by DGGE. Results Two different mutations were detected in PHEX gene among 3 patients ：There was one mutation （T 〉 C） in exon 16 of Hll patient, one mutation 1861（C 〉T） （GIn621X） in exon 18 of H1 and H2 patients. Conclusion The mutation of PHEX gene is the cause of vitamin D resistant rickets. The two mutations are reported for the first time.

关 键 词：抗维生素D佝偻病 PHEX基因 DGGE 

分 类 号：R591.44[医药卫生—内科学] R733.72[医药卫生—临床医学]