Document Detail

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.
MedLine Citation:
PMID:  7920634     Owner:  NLM     Status:  MEDLINE    
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.
B H Weber; G Vogt; W Wolz; E J Ives; C C Ewing
Related Documents :
1219124 - Autosomal recessive oculopharyngeal muscular dystrophy.
1754164 - X-linked megalocornea. ocular findings and linkage analysis.
11504604 - The gene copy ratios of smn1/smn2 in japanese carriers with type i spinal muscular atro...
2003794 - Lattice corneal dystrophy type iiia. clinical and histopathologic correlations.
6819544 - Localization of human variable and constant region immunoglobulin heavy chain genes on ...
7635484 - A human shc-related sequence maps to chromosome 17, the shc gene maps to chromosome 1.
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    
Institut für Humangenetik, Biozentrum, Würzburg, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosomes, Human, Pair 22*
Genes, Dominant
Genetic Markers
Linkage (Genetics)*
Lod Score
Macular Degeneration / genetics*
Reg. No./Substance:
0/Genetic Markers

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

Previous Document:  Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene.
Next Document:  A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromoso...