X连锁隐性遗传无汗/少汗型外胚叶发育不全家系表型和基因型分析  

Phenotypic Analysis of Chinese X-linked Hypohidrotic Ectodermal Dysplasia Pedigrees

作　　者：白忠诚[1,2] 尹伟[3,4] 边专[3] 

机构地区：[1]湖北医药学院附属随州医院 [2]随州市中心医院口腔科,湖北随州441300 [3]武汉大学口腔医学院.湖北省口腔基础医学重点实验室-省部共建国家重点实验室培育基地 [4]大连医科大学口腔医学院

出　　处：《口腔医学研究》2014年第11期1092-1095,共4页Journal of Oral Science Research

基　　金：国家重点基础研究发展计划(编号:2012CB722404);湖北省口腔基础医学重点实验室-省部共建国家重点实验室培育基地开放研究基金(编号:201402)

摘　　要：目的:探讨X连锁隐性遗传无汗/少汗型外胚叶发育不全(XLHED)家系的遗传方式和表型特点,并对家系基因型进行分析。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XLHED家系进行遗传方式和临床表现分析。利用直接测序法对家系EDA基因开放阅读框内外显子编码区及外显子-内含子接头区核苷酸进行序列分析。结果:收集到的家系为X连锁隐性遗传,男性患者临床表现典型,女性携带者有轻度临床表现或无症状,家系内表现度差异小。家系患者EDA基因第491位核苷酸由腺嘌呤颠变为胞嘧啶(c.491A>C)。结论:本研究收集家系的患者临床症状明显,为典型的XLHED家系。家系致病突变为一已知突变(E164A)。Objective： To analyze genetic and phenotypic characters as well as the genotype of one Chinese Xlinked hypohidrotic ectodermal dysplasia pedigree. Methods： The pedigree was reported through the identified proband. All family members were investigated through clinical examination and pedigree analysis. The whole nucleotide sequence was studied by direct sequencing. Results： The pedigree was transmitted through X -linked recessive manner. Three male patients have characteristic features, while carriers has mild exhibition. There was one missense mutation （c. 491A〉C）in exon 3 of EDA gene of pedigrees＇ patient. Conclusion： This family showed similar phenotype with previous report and the causative mutation was a known one （E164A）.

关 键 词：X连锁隐性遗传无汗/少汗型外胚叶发育不全 家系调查 表型 突变 

分 类 号：R596[医药卫生—内科学]