Document Detail

Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
MedLine Citation:
PMID:  8449502     Owner:  NLM     Status:  MEDLINE    
The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112 and MAP1B. We now describe a highly polymorphic, tightly linked microsatellite marker (D5S435) that is very likely the closest proximal marker to the SMA locus. Multipoint linkage analysis firmly establishes the following order of markers at 5q13: centromere-D5S76-D5S6-D5S435-MAP1B/D5S112- D5S39-telomere. The data indicate that SMA resides in an approximately 0.7-cM (range 0.1-2.1) region between D5S435 and MAP1B. This finding reduces by approximately fourfold the genetic region that most likely harbors the SMA locus and will facilitate the physical mapping and cloning of the disease gene region.
V M Soares; L M Brzustowicz; P W Kleyn; J A Knowles; D A Palmer; S Asokan; G K Penchaszadeh; T L Munsat; T C Gilliam
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  15     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-04-14     Completed Date:  1993-04-14     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  365-71     Citation Subset:  IM    
Department of Psychiatry, College of Physicians and Surgeons of Columbia University, New York, New York.
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MeSH Terms
Base Sequence
Cells, Cultured
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA, Single-Stranded
Genetic Markers
Linkage (Genetics)
Microtubule-Associated Proteins
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Grant Support
Reg. No./Substance:
0/DNA, Single-Stranded; 0/Genetic Markers; 0/Microtubule-Associated Proteins; 0/microtubule-associated protein 1B

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