Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.
A large four generation Japanese family was studied, in which autosomal dominant retinitis pigmentosa (ADRP) of very variable expression was segregating. Positive lod scores with maxima between 1.557-5.118 at theta = 0.00, strongly suggestive of linkage, were obtained for KLK, D19S180, D19S418, and D19S254 on chromosome 19q. Recently, an ADRP locus has been mapped to the same region in a British family, in which, again, several members subjectively had no clinical evidence of the disease although they had both an affected parent and an affected child.
Xu
S
S
Institut fur Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Nakazawa
M
M
Tamai
M
M
Gal
A
A
D000293:Adolescent; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007564:Japan; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*