Document Detail


Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15.
MedLine Citation:
PMID:  8339542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Limb-girdle Muscular Dystrophy (LGMD) is a rare form of muscular dystrophy inherited as an autosomal recessive trait. The LGMD locus was recently mapped to chromosome 15. We tested the hypothesis that fibrillin is a candidate in the etiology of the disorder by genetic linkage analysis. A large Amish kindred segregating the disorder was genotyped for two markers specific for the fibrillin gene on chromosome 15. A total of 105 individuals were genotyped and a maximum LOD score of Z = 9. 135 at theta = 0.04 was obtained. Our results confirmed the mapping of the LGMD on chromosome 15 and excluded fibrillin as a candidate molecule. These data will be useful in the construction of a fine map of the region surrounding the LGMD locus, a prerequisite for the cloning of the LGMD gene.
Authors:
M Velinov; M Sarfarazi; K Young; M E Hodes; P M Conneally; C E Jackson; P Tsipouras
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Connective tissue research     Volume:  29     ISSN:  0300-8207     ISO Abbreviation:  Connect. Tissue Res.     Publication Date:  1993  
Date Detail:
Created Date:  1993-09-01     Completed Date:  1993-09-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0365263     Medline TA:  Connect Tissue Res     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  13-21     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Connecticut Health Center, Farmington 06030.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 15*
DNA / genetics
Extremities
Female
Gene Expression / genetics
Genes, Recessive / genetics
Genotype
Humans
Linkage (Genetics)
Male
Microfilament Proteins / genetics*,  physiology
Molecular Sequence Data
Muscular Dystrophies / etiology*,  genetics*
Pedigree
Chemical
Reg. No./Substance:
0/Microfilament Proteins; 0/fibrillin; 9007-49-2/DNA

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


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