外胚叶发育不全一家系的基因型分析  

Study on Genotype of One Ectodermal Dysplasia Pedigree

作　　者：王丽娜[1,2] 史春[1,2] WANG Lina SHI Chun(State Key Laboratory Breeding Base of Oral Basic Science, Hospital and School of Stomatology , Wuhan University, Wuhan 430079, China College of Stomatology , Dalian Medical University, Dalian 116044, China.)

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-省部共建国家重点实验室培育基地,湖北武汉430079 [2]大连医科大学口腔医学院口腔内科学教研室,辽宁大连116044

出　　处：《口腔医学研究》2017年第7期742-744,共3页Journal of Oral Science Research

基　　金：国家自然科学基金(编号:81501750);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:201502);辽宁省教育厅科学研究一般项目(编号:L2015154;L2016027)

摘　　要：目的:分析外胚叶发育不全家系的表型特点和遗传特征,并对家系基因型进行分析。方法:收集1个外胚叶发育不全家系,采用临床检查和家系调查的方法,调查并记录先证者及家系成员的病史和体格检查资料。对家系成员EDAR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序列进行分析。结果:收集到的家系为常染色体显性遗传,患者临床表现典型,家系内表现度差异小。家系成员EDAR基因开放阅读框内未检测到基因突变。结论:本研究收集的外胚叶发育不全家系临床症状明显,致病基因排除EDAR基因。Objective：To analyze the phenotype,genotype and genetic characters of ectodermal dysplasia pedigree.Methods：The ectodermal dysplasia pedigree was reported through the identified proband.All family members were interviewed and had comprehensive clinical examination.The nucleotide sequence in open reading frame of EDRA gene was studied by direct sequencing.Results：The pedigree was transmitted through autosomal dominant manner.Patients had characteristic features of ectodermal dysplasia.There was no mutation in EDAR gene.Conclusion：This family showed typical phenotype of ectodermal dysplasia.The EDAR gene was excluded for the causative gene.

关 键 词：外胚叶发育不全 家系调查 表型 基因型 遗传特征 

分 类 号：R781.2[医药卫生—口腔医学]