Document Detail


Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
MedLine Citation:
PMID:  1505990     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as a closely linked, distal flanking marker for the disease locus, while a third recombinant establishes D5S6 as the proximal flanking marker. The combination of key recombinants and linkage analysis place the SMA gene in an approximately 2-cM interval between loci D5S6 and MAP1B. Physical mapping and cloning locate MAP1B within 250 kb of locus D5S112. The identification and characterization of a highly polymorphic gene locus tightly linked to SMA will facilitate isolation of the disease gene, evaluation of heterogeneity, and development of a prenatal test for SMA.
Authors:
L M Brzustowicz; P W Kleyn; F M Boyce; L L Lien; A P Monaco; G K Penchaszadeh; K Das; C H Wang; T L Munsat; J Ott
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:  13     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1992 Aug 
Date Detail:
Created Date:  1992-09-22     Completed Date:  1992-09-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  991-8     Citation Subset:  IM    
Affiliation:
Department of Psychiatry, Columbia University, College of Physicians and Surgeons, New York, New York.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping*
Chromosomes, Fungal
Chromosomes, Human, Pair 5
DNA
Electrophoresis, Gel, Pulsed-Field
Female
Gene Library
Genetic Markers
Humans
Linkage (Genetics)
Male
Microtubule-Associated Proteins / genetics*
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Grant Support
ID/Acronym/Agency:
R01 HG00008/HG/NHGRI NIH HHS; R01 HG00562/HG/NHGRI NIH HHS; R01 NS528877/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Microtubule-Associated Proteins; 0/microtubule-associated protein 1B; 9007-49-2/DNA

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


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