Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization

Cytogenet Cell Genet. 1994;66(4):244-5. doi: 10.1159/000133703.


The cDNA for human galactocerebrosidase (GALC) has recently been cloned and expressed. A portion of this cDNA was used for in situ hybridization, and the region of strongest signal corresponded to human chromosome region 14q31. This agrees with recent linkage studies that localized Krabbe disease (globoid cell leukodystrophy) to the same region. This information will be useful in future studies for mapping this gene in animal models of GALC deficiency.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Brain / enzymology*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • Cloning, Molecular
  • Galactosylceramidase / genetics*
  • Gene Library
  • Genetic Linkage
  • Humans
  • In Situ Hybridization
  • Leukodystrophy, Globoid Cell / genetics
  • Male
  • Polymerase Chain Reaction
  • Testis / enzymology


  • Galactosylceramidase