一例显性营养不良型大疱性表皮松解症的基因突变检测

中华皮肤科杂志 ›› 2002, Vol. 35 ›› Issue (4): 253-255.

• 论著 • 下一篇

一例显性营养不良型大疱性表皮松解症的基因突变检测

马彦¹, 王冬梅², 朱学骏¹

1. 山西医科大学第二临床医院 030001;
2. 北京大学第一医院皮肤科

收稿日期:2001-09-10 出版日期:2002-08-15 发布日期:2002-08-15
基金资助:
国家自然科学基金资助(39600131)

Identification of Gene Mutation in a Case of Dominant Dystrophic Epiderm olysis Bullosa

MA Yan¹, WANG Dongmei², ZHU Xuejun¹

1. Department of Dermatology, Peking University First Hospital, Beijing 100034, China;
2. Second Hospital of Shanxi Medical University, Shanxi 030001, China

Received:2001-09-10 Online:2002-08-15 Published:2002-08-15

摘要/Abstract

摘要： 目的研究1例营养不良型大疱性表皮松解症家系中的基因突变情况.方法经组织病理、电镜及免疫荧光方法结合临床诊断为显性营养不良型大疱性表皮松解症1例,采用聚合酶链反应(PCR)DNA直接测序,限制性内切酶反应及应用D3S1359、D20S161、D5S818、D17S1293、CSFIPO五个座位微卫星DNA多态标志的方法对此例患者家系进行基因突变情况检测.结果家系中患者存在COL7A1上第6240位鸟嘌呤G被腺嘌呤A替代突变导致Ⅶ胶原第2043位的甘氨酸被精氨酸替代,而其父母及对照的健康人均不存在此突变.结论 G2043R是引起该家系临床病变的特异突变,不是多态性变化,且此突变为一个denovo突变.

关键词: 表皮松解,大疱性,营养不良性, 突变

Abstract: Objective To identify gene mutation in a proban d from a family with dystrophic epidermolysis bullosa.Methods A patient was diagnosed as dominant dystrophic epidermolysis bullosa by pathology,ultrastructural and immunofluorescence examination.Then polymerase chain reaction(PCR),DNA sequencing,restriction endonuclease reaction and five polymorphic microsatellite sequencing at loci D3S1359,D20S161,D5S818,D17S1293 and CSF IPO were performed.Results A G6240A transition in the COL7A1gene was found in the patient.This mutation resulted in G2043R substitution in typeⅦcollagen gene.No mutation was found in other family members and normal individuals.Conclusion The mutation,G2043R,is the underly ing cause of dominant dystrophic epidermolysis bullosa in this familiy,being not common poly morphism.It is a de novo mutation.

Key words: Epidermolysis bullosa,dystrophica, Mutation

马彦, 王冬梅, 朱学骏. 一例显性营养不良型大疱性表皮松解症的基因突变检测[J]. 中华皮肤科杂志, 2002, 35(4): 253-255.doi:

MA Yan, WANG Dongmei, ZHU Xuejun. Identification of Gene Mutation in a Case of Dominant Dystrophic Epiderm olysis Bullosa[J]. Chinese Journal of Dermatology, 2002, 35(4): 253-255.doi:

参考文献

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一例显性营养不良型大疱性表皮松解症的基因突变检测

Identification of Gene Mutation in a Case of Dominant Dystrophic Epiderm olysis Bullosa

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