Document Detail


Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.
MedLine Citation:
PMID:  10209448     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS: The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS: Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION: This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD.
Authors:
M Callaghan; C K Hand; S M Kennedy; J S FitzSimon; L M Collum; N A Parfrey
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The British journal of ophthalmology     Volume:  83     ISSN:  0007-1161     ISO Abbreviation:  Br J Ophthalmol     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-04-27     Completed Date:  1999-04-27     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0421041     Medline TA:  Br J Ophthalmol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  115-9     Citation Subset:  IM    
Affiliation:
Department of Pathology, University College Dublin, Ireland.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Corneal Dystrophies, Hereditary / genetics*
Female
Homozygote*
Humans
Male
Microsatellite Repeats
Pedigree
Polymorphism, Genetic
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