有汗型外胚叶发育不良患者GJB6基因突变检测  

Mutation analysis of GJB6 gene in a family with inherited hidrotic ectodermal dysplasia

作　　者：苏惠春[1] 陈丽红[1] 韩永春[2] 赵嘉惠[3] 林志淼[3] 姚煦[4] 

机构地区：[1]福建医科大学附属第一医院皮肤科,福建福州350005 [2]石狮市医院皮肤科,福建石狮362799 [3]北京大学第一医院皮肤科,北京100034 [4]中国医学科学院北京协和医学院皮肤病研究所,江苏南京210042

出　　处：《临床皮肤科杂志》2017年第1期36-38,共3页Journal of Clinical Dermatology

摘　　要：目的:检测以脱发、甲营养不良为主要表现的有汗型外胚叶发育不良一家系的GJB6基因突变情况。方法:收集患者临床资料,提取患者及其相关亲属外周血DNA,采用PCR扩增GJB6基因编码区的全部外显子及其侧翼序列并测序。结果:基因检测发现患者GJB6基因编码序列第263号核苷酸发生c.263C>T(p.A88V)杂合突变,突变来自于父亲。结论:GJB6基因编码序列第263号核苷酸发生c.263C>T(p.A88V)杂合突变可能为引起该患儿及患病亲属临床表现的原因。Objective： To determine GJB6 gene mutation in a family of hidrotic ectodermal dysplasia with the main mani- festations of alopecia and nail dystrophy. Methods： The clinical data and peripheral blood of the patient and her family members were collected, The patient＇s father and three others in her family had similar symptoms to hers. All the coding exons and their flanking sequences of the GJB6 gene were amplified by PCR, and DNA sequencing were performed. Results： A heterozygous missense mutation（c263C〉T） of GJB6 gene was detected in these patients, leading to the change in coding protein A88V. Her mutation was inherited from her father. Conclusion： The heterozygous mutation of c.263C〉T（A88V） might be the cause of clinical phenotype of this patient and her family members.

关 键 词：有汗型外胚叶发育不良 秃发 甲营养不良 GJB6基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]