Am. Peluso et al., NARROWING OF THE HAILEY-HAILEY DISEASE GENE REGION ON CHROMOSOME 3Q AND IDENTIFICATION OF ONE KINDRED WITH A DELETION IN THIS REGION, Genomics, 30(1), 1995, pp. 77-80
Hailey-Hailey disease is a cutaneous abnormality transmitted as an aut
osomal dominant trait in which impaired interkeratinocyte adhesion pro
duces recurrent blisters in characteristic skin sites. We report here
a confirmation of the initial mapping of the mutant gene to chromosome
3q in an additional seven kindreds, narrowing of the candidate region
to the sequences banked by D3S1589 and D3S1541, and the finding in on
e family of a genomic DNA deletion whose centromeric end is located be
tween these two banking markers. (C) 1995 Academic Press, Inc.