3个中国无汗型外胚叶发育不全家系遗传及临床特点分析  

Analysis of Genetic and Clinical Features in Three Chinese Pedigrees with Hypohidrotic Ectodermal Dysplasia

作　　者：尹伟[1] 邓双[2] 叶晓茜[1] 边专[1] 

机构地区：[1]武汉大学口腔医学院湖北省口腔基础医学重点实验室一省部共建国家重点实验室培育基地,湖北武汉430079 [2]江西省九江市德安县人民医院口腔科

出　　处：《口腔医学研究》2010年第2期217-219,共3页Journal of Oral Science Research

基　　金：国家自然科学基金青年基金(编号:30500562);教育部高等学校全国优秀博士学位论文作者专项基金(编号:2007B69);武汉市青年科技晨光计划(编号:200850731374)

摘　　要：目的:探讨中国无汗型外胚叶发育不全家系(HED)的遗传方式和临床表型特点。方法:采用临床检查和家系调查的方法,对通过先证者法收集的3个HED家系进行遗传方式和临床表现分析。结果:两个家系为X连锁隐性遗传,另一个家系遗传方式不能确定。男性患者临床表现典型,女性携带者有轻中度临床表现或无症状,家系间严重程度不一致,表现度差异大。结论:HED外显率高,表现度差异大,具有明显的遗传异质性。Objective： To analyze genetic and clinical features of three Chinese pedigrees with hypohidrotic ectodermal dysplasia.Methods： Three pedigrees collected by the identified probands were investigated through clinical examination and pedigree analysis.Results： Of the three families recruited,two were transmitted in X-linked recessive manner,the inheritance mode of the remaining one was uncertain.HED males patients had characteristic features,while obligated carriers had mild to moderate exhibition.Some even had no clinical symptom.The expressivity is variable as the differences among pedigrees were very evident.Conclusion： HED with high penetrance and variable expressivity was highly heterogeneous.

关 键 词：无汗型外胚叶发育不全 家系调查 表型 遗传异质性 

分 类 号：R781.6[医药卫生—口腔医学] R596[医药卫生—临床医学]