Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin

J Greenberg; M Babaya; R Ramesar; P Beighton

doi:10.1111/j.1399-0004.1992.tb03406.x

Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin

Clin Genet. 1992 Jun;41(6):322-5. doi: 10.1111/j.1399-0004.1992.tb03406.x.

Authors

J Greenberg¹, M Babaya, R Ramesar, P Beighton

Affiliation

¹ MRC Research Unit for Inherited Skeletal Disorders, Department of Human Genetics, University of Cape Town, Medical School, South Africa.

PMID: 1623630
DOI: 10.1111/j.1399-0004.1992.tb03406.x

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 3*
Female
Genes, Dominant
Genetic Linkage / genetics*
Humans
Male
Pedigree
Retinitis Pigmentosa / genetics*
South Africa
United Kingdom / ethnology