遗传异质性是无汗型外胚叶发育不全的重要特点  

Heterogeneity is the Character of Hypohidrotic Ectodermal Dysplasias.

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教育部口腔生物医学工程重点实验室,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》2008年第3期290-293,共4页Journal of Oral Science Research

基　　金：国家自然科学基金(编号:30500562);武汉市青年科技晨光计划(编号:200850731374)

摘　　要：目的:对收集的1个湖北无汗型外胚叶发育不全(HED)家系进行遗传特点分析,并对HED已知致病基因EDA和EDAR进行突变检测。方法:通过先证者及现场家系调查收集HED家系。对EDA和EDAR开放阅读框内每个外显子编码区及外显子-内含子接头区设计引物,经聚合酶链式反应扩增并纯化后直接测序。结果:收集的HED家系遗传方式不能确定,临床表现典型。EDA和EDAR开放阅读框内的编码序列,仅检测到2个已知多态,未发现突变位点。结论:HED具有明显的遗传异质性,除EDA和EDAR外,还可能存在其他的致病基因。Objective： To investigate the genetic features and sequence changes of EDA and EDAR gene in a Hubei hypohidrotic ectodermal dysplasias （HED）pedigree. Methods： Pedigree was collected by the help of proband. DNA was isolated from leukocytes using standard techniques. The entire coding region and exon-intron boundaries of EDA and EDAR were amplified by polymerase chain reaction and directly sequenced. Results： The inheritance mode was uncertain although clinical features were typical. Open reading frame sequences of EDA and EDAR were identical to that of normal people. Only two single nucleotide polymorphisms had been detected. Conclusion： The heterogeneity of HED was evident. We speculated that there may have some other causative genes for HED.

关 键 词：遗传异质性 无汗型外胚叶发育不全 EDA基因 EDAR基因 

分 类 号：R596.1[医药卫生—内科学] R781.2[医药卫生—临床医学]