有汗性外胚层发育不良并假阿洪病一例及连接蛋白基因突变检测

A case of hidrotic ectodermal dysplasia with pseudo-ainhum and detection of connexin gene mutations

目的对1例有汗性外胚层发育不良并假阿洪病的患者进行了连接蛋白基因突变检测。方法收集该患者及其正常家属（姐姐）的外周血标本提取总DNA，扩增GJB2、GJB5、GJB6基因的部分编码区序列，双向测序验证基因突变。结果患者及其姐姐的GJB5、GJB6基因均未检测到突变。在患者GJB2基因检测到2处突变（V27I和V37I），其姐姐的基因序列未见突变位点。结论有汗性外胚层发育不良并假阿洪病患者不一定出现GJB6基因突变，可能有别的基因参与致病。

Objective To detect the mutations in connexin genes in a family with hidrotic ectodermal dysplasia （HED） complicated by pseudo-ainhum. Methods Peripheral blood samples were collected from a 20-year-old patient with HED complicated by pseudo-ainhum, and from his unaffected sister. Total DNA was extracted fi＇orn these samples, and PCR was performed to amplify the partial coding region of GJB2, GJB5 and GJB6 genes. Subsequently, PCR products were bidirectionally sequenced in both subjects. Results No mutation was detected in GJB5 or GJB6 gene in either subjects. Two mutations （V27I and V37I） were detected in the GJB2 gene in the patient but not in his sister. Conclusion The mutation in the GJB6 gene may be absent in patients with HED; there might be other genes involved in the pathogenesis.