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Clinical Chemistry 41: 59-61, 1995;
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Clinical Chemistry, Vol 41, 59-61, Copyright © 1995 by American Association for Clinical Chemistry

Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay

CM Delahunty, W Ankener, S Brainerd, DA Nickerson and IT Mononen
Department of Molecular Biotechnology, University of Washington, Seattle 98195.

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.


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Copyright © 1995 by the American Association for Clinical Chemistry.