一例显性营养不良型大疱性表皮松解症的基因突变检测

Abstract

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

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.

References

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

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