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

B. Shafit-Zagardo, E. A. Devine, M. Smith, F. Arredondo-Vega, R. J. Desnick

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


The structural gene for human acid β-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 GBA and huma GBA or neutral β-glucosidase (GBN) was observed. Fifty-two primary, secondary, and tertiary man-mouse 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 and fumarate hydratase. 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.

Original languageEnglish (US)
Pages (from-to)564-575
Number of pages12
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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