Analysis of Mutations in COL7A1 Gene in a Hallopeau-Siemens Variant of Recessive Dystrophic Epidermolysis Bullosa
- VernacularTitle:Hallpeau-Siemens型隐性营养不良型大疱性表皮松解症一例的基因突变研究
- Author:
Wei JIANG
;
Ying SUN
;
Xixue CHEN
;
Song LI
;
Dingfang BU
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Epidermolysis bullosa dystrophica;
Codon,nonsense;
Mutation,missense
- From:
Chinese Journal of Dermatology
2003;0(10):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify C0L7Al gene mutations in a family of recessive dystrophic epidermolysis bullosa (RDEB). Methods PCR and direct DNA sequencing were used to determine the mutation sites and types. PCR using allele-specific oligonucleotide primers was performed to further identify the pathogenic cause of this disease. Results The patient examined in this study was a compound heterozygote for a S48P missense mutation in exon 2 and a 3625del 11 PTC mutation in exon 27, which was a novel combination of COL7Al mutations in RDEB. Conclusion The missense mutation and the nonsense mutation in COL7Al gene are underlying causes of the Hallopeau-Siemens variant of RDEB.
