RAPID DETECTION OF THE MAJOR DELETION IN THE BATTEN-DISEASE GENE CLN3BY ALLELE-SPECIFIC PCR

The recent isolation of the CLN3 gene involved in Batten disease (juve nile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diag nosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can b e used in carrier diagnosis, presymptomatic diagnosis, and prenatal di agnosis.