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PMID: 6455062 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Assignment of the gene for acid beta-glucosidase to human chromosome 1.

American journal of human genetics ·Vol. 33 ·No. 4 ·1981-07-00 ·Pages 564-75

Shafit-Zagardo B, Devine EA, Smith M, Arredondo-Vega F, Desnick RJ

Abstract

The structural gene for human acid beta-glucosidase (GBA) has been assigned to chromosome 1 using somatic cell hybridization techniques for gene mapping. The human enzyme was detected in mouse RAG cell-human fibroblast cell hybrids by a sensitive double antibody immunoprecipitation assay using a mouse antihuman GBA antibody. No cross-reactivity between mouse beta-glucosidase and human GBA or neutral beta-glucosidase (GBN) was observed. Fifty-two primary, secondary, and tertiary manmouse hybrid lines, derived from three separate fusion experiments, were analyzed for human GBA and enzyme markers for the human chromosomes. Without exception, the presence of human GBA in these hybrid clones was correlated with the presence of human chromosome 1 or its enzymatic markers, phosphoglucomutase 1 (PGM1), and fumarate hydratase (FH). All other human chromosomes were eliminated by the independent segregation of GBA and their respective enzyme markers and/or chromosomes. Using a RAG X human fibroblast line with a mouse-human rearrangement of human chromosome 1, the locus for GBA was limited to the region 1p11 to 1qter.

MeSH Terms
Animals Chromosome Mapping Chromosomes, Human, 1-3 Fumarate Hydratase/genetics Genes Genetic Markers Glucosidases/genetics Humans Hybrid Cells Isoenzymes/genetics Mice Phosphoglucomutase/genetics beta-Glucosidase/genetics
Chemicals
Genetic Markers Isoenzymes Glucosidases beta-Glucosidase Fumarate Hydratase Phosphoglucomutase
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Shafit-Zagardo B
Devine E A
Smith M
Arredondo-Vega F
Desnick R J
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27 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1981-07-00
Pages
564-75
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685084
Subset
IM
Grants
NIGMS NIH HHS · GM-25279 · United States
NICHD NIH HHS · HD-07105 · United States
External Links
PubMed source PMC Full Text View journal details
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