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

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。

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,ultra-structural and immunofluorescence examination.Then polymerase chain reaction(PCR),DNA sequencing,restric-tion endonuclease reaction and five polymorphic microsatellite sequen cing at loci D3S1359,D20S161,D5S818,D17S1293and CSF IPO were performed.Results A G6240A transition in the COL7A1gen e 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 i n this familiy,being not common poly morphism.It is a de novo mutation.[