Localization And Identification The Susceptible Genes Of Disseminated Superficial Actinic Porokeratosis

Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder. Thus far, the susceptible loci for DSAP have been mapped to chromosome 12q23.2-24.1 (D12S1727-D12S1605) and 15q25.1-26.1 (D15S1023-D15S1030). However, the genetic basis and pathogenesis for this disorder have not been elucidated. Therefore, gene scan and DNA sequencing were performed in three pedigrees from Anhui Province of China to localize and identify the susceptible genes of DSAP. LINKAGE software (5.10 Version) and CYRILLIC software (2.02 Version) were used for linkage and haplotype analyses. Candidate genes within the known regions at chromosome 12 were sequenced in the coding and promoter regions, and SEQUENCE ANALYSIS software (3.3 Version) were employed to analyze and detect the nucleotide variations.In present study, the microsatellite markers within the known regions were used to confirm the chromosomal localization of the responsible genes in three pedigrees. The results of linkage analysis showed that the susceptible loci of the first and second pedigrees were mapped on the long arm of chromosome 12, and overlapped with the known region. However, the susceptible locus of the third pedigree was not in this known region. Instead,...