The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.

Abstract

The GM2 gangliosidoses are a group of recessive disorders characterized by accumulation of GM2 ganglioside in neuronal cells. The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis). We report the establishment of three relational locus-specific databases recording allelic variation at the HEXA, HEXB, and GM2A genes and accessed at the GM2 gangliosidoses home page (http://data.mch.mcgill.ca/gm2-gangliosidoses). Submission forms are available for the addition of new mutations to the databases. The databases are available online for users to search and retrieve information about specific alleles by a number of fields describing mutations, phenotypes, or author(s).

• Authors: P Cordeiro, P Hechtman, F Kaplan
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) 2000 Nov-Dec Vol. 2 Issue 6 Pg. 319-27 ISSN: 1098-3600 [Print] United States
• PMID: 11339652 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Isoenzymes
• Hexosaminidase A
• Hexosaminidase B
• beta-N-Acetylhexosaminidases

Topics

• Alleles
• Canada
• Databases, Factual
• Gangliosidoses, GM2 (genetics)
• Genetic Variation
• Hexosaminidase A
• Hexosaminidase B
• Humans
• Internet
• Isoenzymes (genetics)
• Mutation
• Phenotype
• Sandhoff Disease (genetics)
• Tay-Sachs Disease (genetics)
• beta-N-Acetylhexosaminidases (chemistry, genetics)