Document Detail

Refined mapping of the GM2 activator protein (GM2A) locus to 5q31.3-q33.1, distal to the spinal muscular atrophy locus.
MedLine Citation:
PMID:  8288250     Owner:  NLM     Status:  MEDLINE    
The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based methodology. However, we demonstrated that the PCR primers used preferentially amplified a processed pseudogene (GM2AP) that we mapped to chromosome 3 and that GM2A was located on chromosome 5. In this report, we reconsider the candidacy of GM2A by refining its localization on chromosome 5 using fluorescence in situ hybridization. We localize GM2A to 5q31.3-q33.1; thus, it is not a candidate gene for SMA.
H H Heng; B Xie; X M Shi; L C Tsui; D J Mahuran
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genomics     Volume:  18     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-22     Completed Date:  1994-02-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  429-31     Citation Subset:  IM    
Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.
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MeSH Terms
Cells, Cultured
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA Primers
G(M2) Activator Protein
G(M2) Ganglioside / genetics*
In Situ Hybridization, Fluorescence
Muscular Atrophy, Spinal / genetics*
Polymerase Chain Reaction
Proteins / genetics*
Reg. No./Substance:
0/DNA Primers; 0/G(M2) Activator Protein; 0/Proteins; 19600-01-2/G(M2) Ganglioside

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

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