T. Takano et Y. Yamanouchi, ASSIGNMENT OF HUMAN BETA-GALACTOSIDASE-A GENE TO 3P21.33 BY FLUORESCENCE IN-SITU HYBRIDIZATION, Human genetics, 92(4), 1993, pp. 403-404
GM1 gangliosidosis and Morquio syndrome type B (MPS IVB) are inherited
lyosomal storage disorders associated with deficiency of beta-galacto
sidase-A (beta GAL(A)) activity. A recombinant plasmid containing a bi
otinylated cDNA (2.4-kb insert) encoding human beta GAL(A) was used to
localize the enzyme locus by fluorescence in situ hybridization (FISH
). The human beta GAL(A) gene was assigned to 3p21.33 by FISH.