Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

L. Q. Wu, Y. F. Yang, D. Zheng, H. Deng, Q. Pan, T. L. Zhao, F. Cai, Y. Feng, Z. G. Long, H. P. Dai, B. S. Tang, Y. J. Yang, H. X. Deng, K. Xia*, J. H. Xia

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Background: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. Objectives: To narrow down the candidate regions and to assess candidate genes. Methods: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. Results: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. Conclusions: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.

Original languageEnglish (US)
Pages (from-to)999-1004
Number of pages6
JournalBritish Journal of Dermatology
Volume150
Issue number5
DOIs
StatePublished - May 1 2004

Keywords

  • DSAP1
  • Disseminated superficial actinic porokeratosis
  • Gene mapping
  • Genome-wide scan
  • Linkage analysis
  • Refined mapping

ASJC Scopus subject areas

  • Dermatology

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