Mutation analysis of the COL7A1 gene in pretibial dominant dystrophic epidermolysis bullosa / 中华皮肤科杂志
Chinese Journal of Dermatology
; (12): 50-52, 2016.
Article
em Zh
| WPRIM
| ID: wpr-488802
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WPRO
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.
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Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Dermatology
Ano de publicação:
2016
Tipo de documento:
Article