Article
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
American journal of human genetics - 1 Sept 1990
Lester D H, Inglehearn C F, Bashir R, Ackford H, Esakowitz L, Jay M, Bird A C, Wright A F, Papiha S S, Bhattacharya S S
Abstract excerpt
Recently Dryja and his co-workers observed a mutation in the 23d codon of the rhodopsin gene in a proportion of autosomal dominant retinitis pigmentosa (ADRP) patients. Linkage analysis with a rhodopsin-linked probe C17 (D3S47) was carried out in two large British ADRP families, one with diffuse-type (D-type) RP and the other with regional-type (R-type) RP. Significantly positive lod scores (lod score maximum...
Topics
- Base Sequence
- Codon
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Variation
- Humans
- Lod Score
- Male
- Molecular Sequence Data
- Mutation