Document Detail


A locus for autosomal dominant posterior polar cataract on chromosome 1p.
MedLine Citation:
PMID:  9002669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Autosomal dominant congenital cataract is a clinically and genetically heterogeneous lens disease. Here we report the linkage of a locus for autosomal dominant posterior polar cataract (CPP) to the distal short arm of chromosome 1. To map the CPP locus we performed molecular genetic linkage analysis using microsatellite markers in a three-generation pedigree. After exclusion of 13 known loci and candidate lens genes for autosomal dominant cataract, we obtained significantly positive LOD scores for markers D1S508 (Z = 3.14, theta = 0) and D1S468 (Z = 2.71, theta = 0). Multipoint analysis gave a maximum LOD score of 3.48 (theta = 0.07) between markers D1S508 and D1S468. From haplotype data, however, CPP probably lies in the telomeric interval D1S2845-1pter, which includes the locus for the clinically distinct Volkman congenital cataract (CCV). This study provides the first evidence for genetic heterogeneity of autosomal dominant posterior polar cataract for which a locus had been linked previously to chromosome 16q.
Authors:
A C Ionides; V Berry; D S Mackay; A T Moore; S S Bhattacharya; A Shiels
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  6     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-03-26     Completed Date:  1997-03-26     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  47-51     Citation Subset:  IM    
Affiliation:
Department of Molecular Genetics, Institute of Ophthalmology, University College London, UK.
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MeSH Terms
Descriptor/Qualifier:
Cataract / genetics*,  pathology
Chromosome Mapping
Chromosomes, Human, Pair 1*
Eye / pathology
Female
Genes, Dominant*
Haplotypes
Humans
Male
Pedigree
Grant Support
ID/Acronym/Agency:
//Wellcome Trust

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


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