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. 1985 Oct;82(20):7101–7105. doi: 10.1073/pnas.82.20.7101

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

E I Ginns, P V Choudary, S Tsuji, B Martin, B Stubblefield, J Sawyer, J Hozier, J A Barranger
PMCID: PMC391318  PMID: 3863141

Abstract

Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In situ hybridization of a radiolabeled human glucocerebrosidase cDNA to high resolution human chromosomes demonstrated that a single locus encoding glucocerebrosidase is on 1q21, adjacent to a region of chromosome 1 (1qh) abundant in structural heteromorphisms. We also have identified a hydrophobic leader polypeptide encoded by this locus, permitting a more complete description of the biosynthesis of the enzyme. These results suggest that the type-specific protein polymorphisms in Gaucher disease result from mutations at this single locus, whose segregation might be followed by linkage to visible chromosomal heteromorphisms.

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