X连锁少汗性外胚叶发育不良家系基因突变检测  

Mutation analysis of ED1 gene in a pedigree with X - linked hypohidrotic ectodermal dysplasia

作　　者：刘跃[1] 刘江波[1] 李明[2] 

机构地区：[1]广东省深圳市宝安区妇幼保健院皮肤科,广东深圳518133 [2]上海交通大学附属新华医院皮肤科

出　　处：《中国麻风皮肤病杂志》2012年第1期7-9,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测1例3月龄少汗性外胚叶发育不良男性患儿及其家族成员少汗性外胚叶发育不良(ED1)基因的突变。方法:提取家系成员白细胞中的DNA,设计引物特异扩增ED1基因的外显子及其侧翼区域并测序,与正常人的测序结果进行比较。结果:患儿ED1基因第466位碱基由胞嘧啶变为胸腺嘧啶,使翻译产物中相应的氨基酸由精氨酸变为半胱氨酸,即R156C。先证者母亲为杂合子,父亲未检测到突变。结论:R156C导致了X连锁少汗性外胚叶发育不良在该家系中的传递。Objective： To detect the mutation in a pedigree with X- hnked hypohidrotic ectodermal dysplasia （HED）. Methods： The DNA was abstracted and sequenced from lenkocytes for the detection of ED1 gene in exon 8 by PCR. The results were compared with normal controls. Results： The proband had a mutation in ED1 gene （c.466C 〉 T）, which resulted in an amino acid replacement of R156C. The proband＇s mother was a heterozygote and the mutation not detected in the father. Conclusion： The mutation of R156C is the cause of X- linked HED in this Chinese pedigree.

关 键 词：X连锁少汗性外胚叶发育不良 基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]