Krabbe disease locus mapped to chromosome 14 by genetic linkage

Am J Hum Genet. 1990 Jul;47(1):37-44.


Using genetic linkage we have localized the gene coding for galactocerebrosidase (GALC) to human chromosome 14. Patients with Krabbe disease and their family members were assayed for GALC activity in leukocytes or fibroblasts and were classified as affected, carrier, noncarrier, or unknown. Polymorphic DNA markers from chromosome 14 demonstrated a multipoint LOD score of 3.40 with GALC located 13 cM centromere distal to CRI-C70 (D14S24). This finding is consistent with the location of the mouse twitcher mutation (a model of human GALC deficiency) on chromosome 12, which has substantial homology to human chromosome 14. Our data do not support a previous report's localization of GALC to chromosome 17.

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 14*
  • Female
  • Galactosylceramidase / deficiency
  • Galactosylceramidase / genetics
  • Genetic Carrier Screening
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Leukodystrophy, Globoid Cell / genetics*
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Restriction Mapping


  • Genetic Markers
  • Galactosylceramidase