Document Detail


Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.
MedLine Citation:
PMID:  7987399     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Wolfram syndrome is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to suicide attempts or psychiatric hospitalizations. The Wolfram syndrome gene also predisposes heterozygous carriers to psychiatric disorders, and may contribute significantly to the overall burden of psychiatric illness. Based on a linkage analysis of 11 families segregating for this syndrome using microsatellite repeat polymorphisms throughout the human genome, we found the Wolfram syndrome gene to be linked to markers on the short arm of human chromosome 4, with Zmax = 6.46 at theta = 0.02 for marker D4S431.
Authors:
M H Polymeropoulos; R G Swift; M Swift
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Nature genetics     Volume:  8     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-01-06     Completed Date:  1995-01-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  95-7     Citation Subset:  IM    
Affiliation:
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 4*
Female
Genes, Recessive
Genetic Markers
Humans
Male
Pedigree
Wolfram Syndrome / genetics*
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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