A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.
Br J Dermatol
; 152(4): 658-63, 2005 Apr.
Article
em En
| MEDLINE
| ID: mdl-15840095
ABSTRACT
BACKGROUND:
Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated.OBJECTIVES:
To determine the locus of DSAP and identify the candidate gene(s) of the disease.METHODS:
Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations.RESULTS:
Linkage analysis showed that the maximum two-point lod score of 5.56 was obtained with the marker D12S79 at a recombination fraction theta of 0.00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1-24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family.CONCLUSION:
SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Poroceratose
/
Antígenos de Neoplasias
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
China