Mutation analysis of the COL7A1 gene in pretibial dominant dystrophic epidermolysis bullosa
10.3760/cma.j.issn.0412-4030.2016.01.014
- VernacularTitle:胫前显性营养不良型大疱性表皮松解症基因突变研究
- Author:
Yan DUAN
;
Kang ZENG
;
Yanhua LIANG
;
Qiguo ZHANG
;
Xiaoyan ZHAO
- Publication Type:Journal Article
- Keywords:
Epidermolysis bullosa dystrophica;
Genes,dominant;
Heredity;
Mutation;
COL7A1 gene
- From:
Chinese Journal of Dermatology
2016;49(1):50-52
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the role of type Ⅶ collagen (COL7A1) gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt).Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt,his parents and 100 healthy human controls.A modified salting-out method was used to extract genomic DNA from the blood samples,and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing.Results A G→A mutation was identified at position 6109 (G6109A) in exon 78 of the COL7A1 gene in this patient,which caused a change from GCT to ACT at codon 2037 in the triple helix region,and resulted in the substitution of glycine (Gly) by arginine (Arg) (p.Gly2037Arg).Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt,which may be a pathogenic mutation.
