Abstract
Human acid β-glucosidase (GBA), the lysosomal enzyme deficient in Gaucher disease, has been mapped to chromosome 1 using somatic cell hybridization techniques. Antibody against purified human GBA was raised in Balb/C mice and a sensitive double antibody immunoprecipitation assay was developed to detect human GBA activity in mouse RAG X human fibroblast hybrids. The mouse anti-human GBA antibody was specific for human GBA and no cross-reactivity between mouse β-glucosidase or several other human enzymes, including neutral β-glucosidase could be detected. Fifty-two primary, secondary and tertiary hybrid lines, derived from three separate fusion experiments, were analyzed for human GBA and enzyme markers for each human chromosome. There was 100% correlation between the presence of human GBA and the presence of human chromosome 1 as determined by cytogenetic and chromosome 1 enzymatic marker (phosphoglucomutase 1 and fumurate hydratase) analyses. All other human chromosomes segregated independently of human GBA. The structural locus for human GBA was further defined to the region 1p11 → lqter by using a RAG X human fibroblast line which carried a mouse-human rearrangement involving human chromosome 1.
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Devine, E., Smith, M., Shafit-Zagardo, B. et al. 711 REGIONAL CHROMOSOMAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID β-GLUCOSIDASE. Pediatr Res 15 (Suppl 4), 560 (1981). https://doi.org/10.1203/00006450-198104001-00734
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DOI: https://doi.org/10.1203/00006450-198104001-00734