Molecular basis of globoid cell leukodystrophy in Irish setters

摘要

Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a progressive autosomal recessive disorder of the central nervous system in man and in various other species. GLD has been shown to result from various mutations in the gene encoding galactocerebrosidase (GALC), a lysosomal enzyme. We investigated the molecular basis of GLD in a related group of Irish setters. Sequencing of the GALC cDNA from an affected individual revealed an insertion mutation of 78 base pairs (bp) consisting of 16 bp of insertion site duplication and 62 bp of sequence derived from the U4 small nuclear RNA. We implemented a PCR-based test which is useful for identifying carriers of the mutation.