Document Detail


Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
MedLine Citation:
PMID:  8449502     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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    
Affiliation:
Department of Psychiatry, College of Physicians and Surgeons of Columbia University, New York, New York.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Base Sequence
Cells, Cultured
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA, Single-Stranded
Female
Genetic Markers
Humans
Linkage (Genetics)
Male
Microtubule-Associated Proteins
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Pedigree
Grant Support
ID/Acronym/Agency:
HG00562/HG/NHGRI NIH HHS; NS528877/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Single-Stranded; 0/Genetic Markers; 0/Microtubule-Associated Proteins; 0/microtubule-associated protein 1B

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


Previous Document:  Three Hsp70 genes are located in the C4-H-2D region: possible candidates for the Orch-1 locus.
Next Document:  Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application us...