Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q.
Hailey-Hailey disease (familial benign chronic pemphigus) is an autosomal dominant skin disease characterized by impaired keratinocyte cohesion and consequent blister formation. In the present study we have used linkage analysis to map the gene for this disease to a region of chromosome 3q between D3S1589 and D3S1316. The maximum combined two point lod score in four families studied was 14.60 at theta = 0 at the D3S1290 microsatellite repeat. These findings suggest the presence of a gene not previously known to be involved in keratinocyte cohesion at this site.
Ikeda
S
S
Department of Dermatology, University of California at San Francisco.
Welsh
E A
EA
Peluso
A M
AM
Leyden
W
W
Duvic
M
M
Woodley
D T
DT
Epstein
E H
EH
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015603:Keratinocytes / Q000473:pathology; D008126:Lod Score; D008297:Male; D009154:Mutation; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics* / Q000473:pathology; D012091:Repetitive Sequences, Nucleic Acid
D004276:DNA, Satellite; D005819:Genetic Markers