| Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. | |
MedLine Citation:
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PMID: 8102297 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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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:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Nature genetics Volume: 4 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 1993 Jun |
Date Detail:
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Created Date: 1993-09-16 Completed Date: 1993-09-16 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 165-9 Citation Subset: IM |
Affiliation:
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Collaborative Research, Inc. Waltham, Massachusetts 02154. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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GM07311-18/GM/NIGMS NIH HHS; M01-RR0004/RR/NCRR NIH HHS; MO1-RR00034/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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