Type

Journal Article

Authors

J A Trofatter
P M Conneally
H Eiberg
M M Humphries
E M Sharp
M Lawler
P Kenna
D G Bradley
P McWilliam
G J Farrar

Subjects

Biochemistry

Topics
retinitis pigmentosa chromosomes human pair 3 data interpretation statistical dna female pedigree base sequence isolation purification amino acid sequence genetic linkage gene amplification genetics genetic markers genes dominant rhodopsin blotting southern polymerase chain reaction male molecular sequence data humans

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. (1990)

Abstract Retinitis pigmentosa (RP) is the most prevalent human retinopathy of genetic origin. Chromosomal locations for X-linked RP and autosomal dominant RP genes have recently been established. Multipoint analyses with ADRP and seven markers on the long arm of chromosome 3 demonstrate that the gene for rhodopsin, the pigment of the rod photoreceptors, cosegregates with the disease locus with a maximum lod score of approximately 19, implicating rhodopsin as a causative gene. Recent studies have indicated the presence of a point mutation at codon 23 in exon 1 of rhodopsin which results in the substitution of histidine for the highly conserved amino acid proline, suggesting that this mutation is a cause of rhodopsin-linked ADRP. This mutation is not present in the Irish pedigree in which ADRP has been mapped close to rhodopsin. Another mutation in the rhodopsin gene or in a gene closely linked to rhodopsin may be involved. Moreover, the gene in a second ADRP pedigree, with Type II late onset ADRP, does not segregate with chromosome 3q markers, indicating that nonallelic as well as perhaps allelic genetic heterogeneity exists in the autosomal dominant form of this disease.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

J A Trofatter, P M Conneally, H Eiberg, M M Humphries, E M Sharp, M Lawler, P Kenna, D G Bradley, P McWilliam, G J Farrar

Experts in our system

1
Marian M Humphries
Trinity College Dublin
Total Publications: 43
 
2
Mark Lawler
Trinity College Dublin
Total Publications: 38
 
3
Paul F Kenna
Trinity College Dublin
Total Publications: 62
 
4
Daniel Bradley
Trinity College Dublin
Total Publications: 84
 
5
G Jane Farrar
Trinity College Dublin
Total Publications: 64