Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24

G. Richard, B. P. Korge, A. R. Wright, C. Mazzanti, W. Harth, M. Annichiarico-Petruzzelli, J. G. Compton, S. J. Bale

Research output: Contribution to journalArticlepeer-review

Abstract

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14 cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany and Italy using 11 polymorphic microsatellite markers and found no evidence for genetic heterogeneity. We observed complete cosegregation between HHD and marker D3S1587, with a maximal lod score of 4.54. Detailed haplotype analyses allowed us to narrow the interval containing the HHD locus to 5 cM, flanked by D3S1589 and D3S1290.

Original languageEnglish
Pages (from-to)357-360
Number of pages4
JournalJournal of Investigative Dermatology
Volume105
Issue number3
Publication statusPublished - 1995

Keywords

  • epidermis
  • familial benign chronic pemphigus
  • genodermatosis
  • linkage

ASJC Scopus subject areas

  • Dermatology

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