Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa.
We have investigated the possible involvement of further genetic heterogeneity in autosomal dominant retinitis pigmentosa using a previously unreported large Irish family with the disease. We have utilized polymorphic microsatellite markers to exclude the disease gene segregating in this family from 3q, 6p, and the pericentric region of 8, that is, each of the three chromosomal regions to which adRP loci are known to map. Hence, we provide definitive evidence for the involvement of a fourth locus in autosomal dominant retinitis pigmentosa.
Kumar-Singh
R
R
Department of Genetics, Trinity College, Dublin, Republic of Ireland.
Kenna
P F
PF
Farrar
G J
GJ
Humphries
P
P
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*