Siemens大疱性鱼鳞病基因突变国内首次报道

First report of gene mutation in a Chinese patient with ichthyosis bullosa of Siemens

为研究Siemens大疱性鱼鳞病患者基因突变情况,对1例Siemens大疱性鱼鳞病患者皮损进行组织病理及电镜观察,并采用聚合酶链反应及DNA直接测序方法,检测患者基因突变。结果发现该患者角蛋白2e(K2e)基因存在杂合点突变E493K。

To identify gene mutation of a patient with ichthyosis bullosa of Siemens,punch biopsies from typical lesion were exam-ined by light microscopy and transmission electron microscopy,and polymerase chain reaction(PCR)and DNA sequencing were employed to mutation detection.A single heterozygous point mutation E493K of keratin2e gene was found in the patient ,not in normal controls.This mutation causing ichthyosis bullosa of Siemens was reported in China for the first time.