FINNISH-TYPE ASPARTYLGLUCOSAMINURIA DETECTED BY OLIGONUCLEOTIDE LIGATION ASSAY

Aspartylglycosaminuria (AGU) is a recessively inherited lysosomal stor age disease that occurs with much higher frequency in Finland than els ewhere. AGU is caused by a deficiency in glycosylasparaginase (GA), wh ich results in the accumulation of glycoasparagines in lysosomes. In t he Finnish population, a single nucleotide change in the gene encoding GA is responsible for the disease. We have used the oligonucleotide l igation assay (OLA) to detect the mutation in polymerase chain reactio n (PCR)-amplified DNA samples from normal, carrier, and affected indiv iduals. Screening for AGU among 415 random Finnish DNA samples with PC R/OLA revealed five carriers of the mutant allele and demonstrated the potential of the method for use in carrier screening. PCR/OLA provide s a rapid, reliable, nonisotopic method to detect the mutation respons ible for AGU that can readily be applied to large population screening .