Aspartylglycosaminuria (AGU) is a recessively inherited lysosomal storage disease that occurs with much higher frequency in Finland than elsewhere.
AGU is caused by a deficiency in glycosylasparaginase (GA), which results in the accumulation of glycoasparagines in lysosomes.
In the Finnish population, a single nucleotide change in the gene encoding GA is responsible for the disease.
We have used the oligonucleotide ligation assay (OLA) to detect the mutation in polymerase chain reaction (PCR) amplified DNA samples hom normal, carrier, and affected individuals.
Screening for AGU among 415 random Finnish DNA samples with PCR/OLA revealed five carriers of the mutant allele and demonstrated the potential of the method for use in carrier screening.
PCR/OLA provides a rapid, reliable, nonisotopic method to detect the mutation responsible for AGU that can readily be applied to large population screening.
Mots-clés Pascal : Homme, Finlande, Europe, Mutation, Méthode analyse, Biologie clinique, Diagnostic, Génétique population, Aspartylglucosaminurie, Déficit, Métabolisme pathologie, Maladie héréditaire, Enzymopathie, bêta-Aspartyl-N-acetylglucosaminidase, N-Glycosidases, Glycosidases, Hydrolases, Enzyme
Mots-clés Pascal anglais : Human, Finland, Europe, Mutation, Analysis method, Clinical biology, Diagnosis, Population genetics, Aspartylglucosaminuria, Deficiency, Metabolic diseases, Genetic disease, Enzymopathy, bêta-Aspartyl-N-acetylglucosaminidase, N-Glycosidases, Glycosidases, Hydrolases, Enzyme
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 95-0104224
Code Inist : 002B22D03. Création : 09/06/1995.