一个低血磷性佝偻病家系的PHEX基因突变研究

Analysis of PHEX gene mutation in a hypophosphatasia pedigree

目的筛查低血磷性佝偻病患者的致病基因突变，从基因水平确诊患者并探讨其发病机制。方法提取1个低血磷性佝偻病家系先证者及其父母外周血基因组DNA，针对PHEX基因编码区设计引物，PCR扩增后测序。结果在先证者的PHEX基因第6内含子区筛查到c．732＋1G〉T突变，其母亲也存在相同的突变。结论c．732＋1G〉T突变导致PHEX基因的hnRNA错误剪接是该家系中患者临床表型的致病原因。

Objective To screen potential mutations of PHEX gene in a family featuring hypophosphatemic ricket in order to confirm the molecular diagnosis and pathogenetic mechanism. Methods Genomie DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database and primers for its coding region were designed with Primer premier 5. 0. Potential mutations were detected with PCR amplification and DNA sequence analysis. Results A mutation was identified in intron 6 of the PHEX gene in the proband and his mother. Conclusion The e. 732＋1G〉T mutation underlies the hypophosphatemic ricket in this family.