Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

P McWilliam; G J Farrar; P Kenna; D G Bradley; M M Humphries; E M Sharp; D J McConnell; M Lawler; D Sheils; C Ryan

doi:10.1016/0888-7543(89)90031-1

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3

Genomics. 1989 Oct;5(3):619-22. doi: 10.1016/0888-7543(89)90031-1.

Authors

P McWilliam¹, G J Farrar, P Kenna, D G Bradley, M M Humphries, E M Sharp, D J McConnell, M Lawler, D Sheils, C Ryan, et al.

Affiliation

¹ Department of Genetics, Trinity College Dublin, Ireland.

PMID: 2613244
DOI: 10.1016/0888-7543(89)90031-1

Abstract

Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

Publication types

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

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 3*
Female
Genes, Dominant*
Genetic Linkage*
Genetic Markers
Humans
Lod Score
Male
Pedigree
Polymorphism, Genetic
Recombination, Genetic
Retinitis Pigmentosa / genetics*

Substances

Genetic Markers