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GM1-gangliosidosis: Chromosome 3 assignment of theβ-galactosidase-A gene (β GAL A )

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Somatic Cell Genetics

Abstract

The structural gene (βGALA) coding for lysosomal β-galactosidase- A (EC 3.2.1.23) has been assigned to human chromosome 3 using man-mouse somatic cell hybrids. Human β-galactosidase-A was identified in cell hybrids with a species-specific antiserum to human liver β-galactosidase-A. The antiserum precipitates β-galactosidase-A from human tissues, cultured cells, and cell hybrids, and recognizes cross-reacting material from a patient with GM1 gangliosidosis. We have analyzed 90 primary man-mouse hybrids derived from 12 separate fusion experiments utilizing cells from 9 individuals. Enzyme segregation analysis excluded all chromosomes for βGALA assignment except chromosome 3. Concordant segregation of chromosomes and enzymes in 16 cell hybrids demonstrated assignment of βGALA to chromosome 3; all other chromosomes were excluded. The evidence suggests that GM1 gangliosidosis is a consequence of mutation at this βGALA locus on chromosome 3.

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Authors and Affiliations

  1. New York State Department of Health, Biochemical Genetics Section, Roswell Park Memorial Institute, 14263, Buffalo, New York

    Thomas B. Shows & Linda R. Scrafford-Wolff

  2. Department of Human Genetics, Medical College of Virginia, 23298, Richmond, Virginia

    Judith A. Brown

  3. Department of Human Genetics, University of Michigan Medical School, 48109, Ann Arbor, Michigan

    Miriam H. Meisler

Authors
  1. Thomas B. Shows
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  2. Linda R. Scrafford-Wolff
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  3. Judith A. Brown
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  4. Miriam H. Meisler
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Shows, T.B., Scrafford-Wolff, L.R., Brown, J.A. et al. GM1-gangliosidosis: Chromosome 3 assignment of theβ-galactosidase-A gene (β GAL A ). Somat Cell Mol Genet 5, 147–158 (1979). https://doi.org/10.1007/BF01539157

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  • DOI: https://doi.org/10.1007/BF01539157

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