Document Detail


Linkage of posterior polymorphous corneal dystrophy to 20q11.
MedLine Citation:
PMID:  7795607     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In PPMD, the endothelium is often multi-layered and has several other characteristics of an epithelium including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases. A large family with 21 members affected with PPMD was genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. Linkage was established with markers on the long arm of chromosome 20. The highest observed LOD score was 5.54 (theta = 0) with marker D20S45. Analysis of recombination events in four affected individuals revealed that the disease gene lies within a 30cM interval between markers D20S98 and D20S108.
Authors:
E Héon; W D Mathers; W L Alward; R W Weisenthal; S L Sunden; J A Fishbaugh; C M Taylor; J H Krachmer; V C Sheffield; E M Stone
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  4     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-08-03     Completed Date:  1995-08-03     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  485-8     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 20*
Corneal Dystrophies, Hereditary / genetics*
Endothelium, Corneal / pathology
Female
Glaucoma / etiology
Humans
Linkage (Genetics)*
Male
Pedigree
Recombination, Genetic
Grant Support
ID/Acronym/Agency:
EY10539/EY/NEI NIH HHS; EY10564/EY/NEI NIH HHS

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


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