title: Identification of GM2-gangliosidosis B1 variant carriers.
abstract: GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 variant obligate carriers and controls, using the total extract and the Hex A immunobound to a monoclonal antibody. The Hex A immunoassay was applied to the identification of carriers in B1 variant families and the results obtained were compared with those from DNA analysis. The reliability and feasibility of the Hex A immunoassay make it a suitable method for B1 variant carrier screening, which is particularly important for the prevention of this severe neurological disease in the population at risk.
authors.affiliation: Institute de Genética Médica Jacinto de Magalhaes, Porto, Portugal.
authors.forename: M G
authors.initials: MG
authors.lastname: Ribeiro
authors.forename: R
authors.initials: R
authors.lastname: Pinto
authors.forename: P
authors.initials: P
authors.lastname: Oliveira
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D054818:Hexosaminidase A; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives / Q000652:urine; D008297:Male; D008875:Middle Aged; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000652:urine
chemical_list: D006923:Hymecromone; C034888:4-methylumbelliferyl glucuronide; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases