Document Detail

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.
MedLine Citation:
PMID:  1998333     Owner:  NLM     Status:  MEDLINE    
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humeroperoneal dystrophy associated with cardiomyopathy that is distinct from the Duchenne and Becker forms of X-linked muscular dystrophy. Linkage analysis has assigned EDMD to the terminal region of the human X chromosome long arm. We report here further linkage analysis in two multigenerational EDMD families using seven Xq28 marker loci. Cumulative lod scores suggest that EDMD is approximately 2 cM from DXS52 (lod = 15.67) and very close to the factor VIII (F8C) and the red/green color pigment (R/GCP) loci, with respective lod scores of 9.62 and 10.77, without a single recombinant. Several recombinations between EDMD and three proximal Xq28 markers suggest that the EDMD gene is located in distal Xq28. Multipoint linkage analysis indicates that the odds are 2,000:1 that EDMD lies distal to DXS305. These data substantially refine the ability to perform accurate carrier detection, prenatal diagnosis, and the presymptomatic diagnosis of at-risk males for EDMD by linkage analysis. The positioning of the EDMD locus close to the loci for F8C and R/GCP will assist in future efforts to identify and isolate the disease gene.
G G Consalez; N S Thomas; C L Stayton; S J Knight; M Johnson; L C Hopkins; P S Harper; L J Elsas; S T Warren
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  48     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-04-03     Completed Date:  1991-04-03     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  468-80     Citation Subset:  IM    
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
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MeSH Terms
Chromosome Mapping*
DNA / analysis
Genetic Markers
Genetic Testing
Heterozygote Detection
Linkage (Genetics)*
Muscular Dystrophies / diagnosis,  genetics*
Muscular Dystrophy, Emery-Dreifuss
Polymorphism, Genetic
Risk Factors
X Chromosome / ultrastructure*
Grant Support
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

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

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