Document Detail


A locus for autosomal dominant anterior polar cataract on chromosome 17p.
MedLine Citation:
PMID:  8852669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained significant positive LOD scores for markers D17S849 (Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these two markers. From haplotype analysis, the cataract locus lies in the 13 cM interval between markers D17S849 and D17S796. This study provides the first genetic mapping of an autosomal dominant anterior polar cataract.
Authors:
V Berry; A C Ionides; A T Moore; C Plant; 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:  5     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1996 Mar 
Date Detail:
Created Date:  1997-01-13     Completed Date:  1997-01-13     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  415-9     Citation Subset:  IM    
Affiliation:
Department of Molecular Genetics, University College London, UK.
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MeSH Terms
Descriptor/Qualifier:
Cataract / congenital,  genetics*
Chromosome Mapping*
Chromosomes, Human, Pair 17*
Female
Genes, Dominant
Genetic Markers
Humans
Lens, Crystalline / pathology
Linkage (Genetics)
Lod Score
Male
Pedigree
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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