Document Detail


Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.
MedLine Citation:
PMID:  1427827     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Genetic studies have revealed that 25 to 30% of autosomal dominant retinitis pigmentosa (adRP) families have mutations in the rhodopsin gene, while the remainder do not. More recently linkage data and mutation detection have demonstrated two further loci implicated in adRP, at an as yet unidentified gene on chromosome 8p and at the human gene homologue of the mouse Rds (Retinal Degeneration Slow) gene on chromosome 6p. We have previously reported exclusion of adRP from the rhodopsin locus on 3q in two large adRP families. We now report exclusion data for both families, on chromosomes 6 and 8, demonstrating that the adRP phenotype results from mutations in at least four locations.
Authors:
R Bashir; C F Inglehearn; T J Keen; J Lindsey; U Atif; S A Carter; A M Stephenson; A Jackson; M Jay; A C Bird
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  14     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Sep 
Date Detail:
Created Date:  1992-12-22     Completed Date:  1992-12-22     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  191-3     Citation Subset:  IM    
Affiliation:
Molecular Genetics Unit, Department of Human Genetics, Newcastle upon Tyne, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping*
Chromosomes, Human, Pair 6*
Chromosomes, Human, Pair 8*
Crossing Over, Genetic
Genes, Dominant*
Genetic Markers
Humans
Linkage (Genetics)
Lod Score
Retinitis Pigmentosa / genetics*
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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