无汗/少汗型外胚叶发育不全家系致病基因的筛查

口腔医学研究 ›› 2015, Vol. 31 ›› Issue (1): 41-44.

无汗/少汗型外胚叶发育不全家系致病基因的筛查

刘玉¹,尹伟²,边专²,史春^3*

1. 大连市第五人民医院口腔科辽宁大连 116021;
2. 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;
3. 大连医科大学口腔医学院口腔内科教研室

收稿日期:2014-08-15 出版日期:2015-01-28 发布日期:2016-04-29
通讯作者: 史春,E-mail:shichun33@163.com
作者简介:刘玉(1977~ ),女,大连人,硕士,主治医师,主要从事口腔内科临床及基础研究的工作。
基金资助:
国家自然科学基金国际(地区)合作与交流项目(编号:81120108010);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)

Causative Gene Analysis of Chinese Hypohidrotic Ectodermal Dysplasia Pedigrees.

LIU Yu, YIN Wei, BIAN Zhuan, et al

Department of Stomatology, The Fifth Peaple’s Hospital of Dalian, Dalian 116021

Received:2014-08-15 Online:2015-01-28 Published:2016-04-29

摘要/Abstract

摘要： 目的:探讨无汗/少汗型外胚叶发育不全(HED)家系的遗传方式及表型特点,并对家系致病基因进行筛查。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HED家系进行遗传方式和临床表现分析。利用直接测序法对EDA、EDAR和EDARADD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:收集到的家系为典型的无汗/少汗型外胚叶发育不全家系,先证者临床表现典型,毛发发育不良,头发、眉毛、睫毛稀疏;汗腺发育不良,无汗/少汗,体温随季节变化有明显改变;缺失多颗恒牙,并有乳牙滞留。家系内其他成员无明显异常表现。对EDA、EDAR和EDARADD基因开放阅读框的测序分析未找到致病突变。结论:本研究收集家系的患者临床症状明显,排除目前已知致病基因突变。

关键词: 无汗/少汗/少汗型外胚叶发育不全, 家系调查, 表型, 致病基因, 突变

Abstract: Objective: To analyze genetic and phenotypic characters as well as the causative gene of one Chinese hypohidrotic ectodermal dysplasia (HED) pedigree. Methods: The pedigree was reported through the identified proband. All family members were investigated through clinical examination and pedigree analysis. The whole ORF nucleotide sequence of EDA, EDAR and EDARADD were analyzed by direct sequencing. Results: The proband male patient has characteristic phenotype of HED. There was no mutation in EDA, EDAR and EDARADD gene. Conclusion: The patient showed similar phenotype with the previous report. But this study did not get the causative gene.

Key words: Hypoplastic ectodermal dysplasia , Genealogical investigation , Phenotype , Causative geneMutation

中图分类号:

Q132

刘玉,尹伟,边专,史春. 无汗/少汗型外胚叶发育不全家系致病基因的筛查[J]. 口腔医学研究, 2015, 31(1): 41-44.

LIU Yu, YIN Wei, BIAN Zhuan, et al. Causative Gene Analysis of Chinese Hypohidrotic Ectodermal Dysplasia Pedigrees.[J]. Journal of Oral Science Research, 2015, 31(1): 41-44.

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