Document Detail


Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.
MedLine Citation:
PMID:  7920634     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from subretinal neovascularization and atrophy of the choriocapillaris, pigment epithelium and retina. SFD shares some striking clinical features with age-related macular degeneration (AMD), the most common cause of blindness in western countries thereby providing a valuable genetic model for AMD. To map the SFD locus, we performed linkage analysis in a single large SFD family. After exclusion of approximately 65% of the autosomal genome, we found significant linkage to several markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13-qter between D22S275 and D22S274.
Authors:
B H Weber; G Vogt; W Wolz; E J Ives; C C Ewing
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  7     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Jun 
Date Detail:
Created Date:  1994-11-09     Completed Date:  1994-11-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  158-61     Citation Subset:  IM    
Affiliation:
Institut für Humangenetik, Biozentrum, Würzburg, Germany.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 22*
Female
Genes, Dominant
Genetic Markers
Humans
Linkage (Genetics)*
Lod Score
Macular Degeneration / genetics*
Male
Pedigree
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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