title: Preliminary molecular analysis of a case of feline mucopolysaccharidosis VI.
abstract: Deficiency of the lysosomal enzyme arylsulphatase B (ASB) causes, in man, the Maroteaux-Lamy disease (mucopolysaccharidosis type VI, MPS VI). MPS VI has been described also in Siamese cats. Isolation and characterization of the human and feline cDNAs encoding ASB has been reported as well as the assignment of the feline ASB gene to feline chromosome A1. The present paper describes the Southern and Northern blot analyses on DNA and RNA from an MPS VI affected cat using the human arylsulphatase B probe (ASB2). Our data suggest that a gross deletion/rearrangement of the ASB gene is present in the affected animal.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina e Chirurgia, Università di Napoli Federico II, Italy.
authors.forename: T
authors.initials: T
authors.lastname: De Luca
authors.forename: L
authors.initials: L
authors.lastname: Minichiello
authors.forename: A
authors.initials: A
authors.lastname: Leone
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D015139:Blotting, Southern; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats / Q000235:genetics*; D002803:Chondro-4-Sulfatase / Q000172:deficiency / Q000235:genetics; D004247:DNA / Q000302:isolation & purification; D005347:Fibroblasts / Q000378:metabolism; D017353:Gene Deletion; D015321:Gene Rearrangement; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000235:genetics / Q000662:veterinary*; D012313:RNA / Q000302:isolation & purification; D015183:Restriction Mapping
chemical_list: D012313:RNA; D004247:DNA; D002803:Chondro-4-Sulfatase