A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2.
As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of the AKE family. Loose linkage is possible between AKE and ACP1, IGKC, and Jk, but the estimated recombination fractions do not reach significant deviations from 0.5. However, since the three marker loci have been previously assigned to chromosome 2, the AKE locus might be assigned tentatively to the same chromosome. Of the provisionally and inconsistently assigned markers, only blood group P is seen to be in linkage with HLA.
D000135:Acid Phosphatase / Q000235:genetics; D001789:Blood Group Antigens; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D007145:Immunoglobulin kappa-Chains / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012204:Rh-Hr Blood-Group System / Q000235:genetics
D001789:Blood Group Antigens; D005819:Genetic Markers; D006680:HLA Antigens; D007145:Immunoglobulin kappa-Chains; D012204:Rh-Hr Blood-Group System; D000135:Acid Phosphatase