title: Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
abstract: 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 from 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.
authors: Department of Molecular Biotechnology, University of Washington, Seattle 98195.
authors: C M
authors: CM
authors: Delahunty
authors: W
authors: W
authors: Ankener
authors: S
authors: S
authors: Brainerd
authors: D A
authors: DA
authors: Nickerson
authors: I T
authors: IT
authors: Mononen
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D000483:Alleles; D054880:Aspartylglucosaminuria; D001483:Base Sequence; D011088:DNA Ligases / Q000378:metabolism*; D005387:Finland; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009841:Oligonucleotides / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D013698:Templates, Genetic
chemical_list: D009841:Oligonucleotides; C000009:N-acetylglucosaminylasparagine; D011088:DNA Ligases; D000117:Acetylglucosamine