title: Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle.
abstract: Northern analyses revealed normal levels of acidic alpha-glucosidase mRNA in cultured fibroblasts from a Shorthorn calf affected with glycogenosis but a gross deficiency in an affected Brahman calf. Analyses of acidic alpha-glucosidase activity, relative to that of other lysosomal enzymes, in blood mononuclear cells revealed greater variation within and between Brahman herds than Shorthorn herds. A Msp1 restriction fragment length polymorphism associated with glycogenosis in Brahmans was not found in Shorthorns. These results are considered in relation to molecular heterogeneity for AAG deficiency in cattle and its implications for disease control programs.
authors.affiliation: Elizabeth Macarthur Agricultural Institute, Camden, New South Wales.
authors.forename: P J
authors.initials: PJ
authors.lastname: Healy
authors.forename: P J
authors.initials: PJ
authors.lastname: Nicholls
authors.forename: F
authors.initials: F
authors.lastname: Martiniuk
authors.forename: S
authors.initials: S
authors.lastname: Tzall
authors.forename: R
authors.initials: R
authors.lastname: Hirschhorn
authors.forename: J M
authors.initials: JM
authors.lastname: Howell
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D001947:Breeding; D002417:Cattle; D002418:Cattle Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D002478:Cells, Cultured; D003433:Crosses, Genetic; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000737:chemistry / Q000201:enzymology / Q000473:pathology; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D006008:Glycogen Storage Disease / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D006579:Heterozygote; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D000520:alpha-Glucosidases / Q000032:analysis / Q000172:deficiency / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger; D000520:alpha-Glucosidases