Document Detail


Three autosomal dominant corneal dystrophies map to chromosome 5q.
MedLine Citation:
PMID:  8136834     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5.
Authors:
E M Stone; W D Mathers; G O Rosenwasser; E J Holland; R Folberg; J H Krachmer; B E Nichols; P D Gorevic; C M Taylor; L M Streb
Related Documents :
3594934 - Molecular heterogeneity of translocations associated with muscular dystrophy.
2879924 - Localisation of xp21 meiotic exchange points in duchenne muscular dystrophy families.
1612584 - Radiation-reduced hybrids for the myotonic dystrophy locus.
7581364 - Allelic association and deletions in autosomal recessive proximal spinal muscular atrop...
3099194 - Measurement of micronuclei by cytokinesis-block method in cultured chinese hamster cell...
6170224 - Ring 14 chromosome: association with seizures.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  6     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-04-25     Completed Date:  1994-04-25     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  47-51     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Alleles
Amyloid / genetics
Chromosome Mapping
Chromosomes, Human, Pair 5*
Corneal Dystrophies, Hereditary / genetics*,  pathology
Female
Genes, Dominant
Genetic Markers
Humans
Italy / ethnology
Linkage (Genetics)
Lod Score
Male
Pedigree
United States
Grant Support
ID/Acronym/Agency:
EY08426/EY/NEI NIH HHS; HG00457/HG/NHGRI NIH HHS; P50HG00835/HG/NHGRI NIH HHS
Chemical
Reg. No./Substance:
0/Amyloid; 0/Genetic Markers

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


Previous Document:  Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromos...
Next Document:  A subterminal satellite located adjacent to telomeres in chimpanzees is absent from the human genome...