Document Detail


Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.
MedLine Citation:
PMID:  8102297     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been linked to polymorphisms on chromosome 4q35. Multipoint linkage analyses have placed this gene distal to all reported genetic markers on the chromosome. By using as a probe a clone isolated from a cosmid containing sequences related to a homeobox domain, de novo DNA rearrangements were reported in sporadic and familial cases of FSHD. Linkage analysis of an EcoRI polymorphism detected by this clone in twenty-four multigenerational FSHD families revealed recombinants between this marker and the disease with a recombination fraction of 0.05. Two families with apparent germline mosaicism were also identified.
Authors:
B Weiffenbach; J Dubois; D Storvick; R Tawil; S J Jacobsen; J Gilbert; C Wijmenga; J R Mendell; S Winokur; M R Altherr
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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:  Nature genetics     Volume:  4     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1993-09-16     Completed Date:  1993-09-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  165-9     Citation Subset:  IM    
Affiliation:
Collaborative Research, Inc. Waltham, Massachusetts 02154.
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MeSH Terms
Descriptor/Qualifier:
Blotting, Southern
Chromosomes, Human, Pair 4*
Cosmids
Female
Genes, Dominant
Genetic Markers
Humans
Lod Score
Male
Mosaicism
Muscular Dystrophies / classification,  genetics*
Pedigree
Polymorphism, Restriction Fragment Length
Recombination, Genetic*
Grant Support
ID/Acronym/Agency:
GM07311-18/GM/NIGMS NIH HHS; M01-RR0004/RR/NCRR NIH HHS; MO1-RR00034/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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