Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.
Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for genetic heterogeneity in ADRP.
Greenberg
J
J
MRC Research Unit for Inherited Skeletal Disorders, Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Babaya
M
M
Ramesar
R
R
Beighton
P
P
D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013019:South Africa; D006113:United Kingdom / Q000208:ethnology