Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization

The current approach to the chromosomal localization of genes coding for lysosomal enzymes has been the correlation of enzymatic and karyotypic analyses of human-rodent somatic cell hybrids. The feasibility of regional mapping depends on the availability of human cells with informative chromosomal rearrangements. In this communication we report the first localization of a gene coding for a lysosomal enzyme by in situ hybridization. The application of an acid alpha-glucosidase cDNA probe to normal human chromosomes allowed direct regional mapping of the alpha-glucosidase locus (GAA) to the region q23----q25 of chromosome 17.