CARRIER DETECTION OF BATTEN-DISEASE (JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS)

Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis , is an autosomal recessive neurodegenerative disorder manifesting wit h progressive blindness, seizures, and dementia, leading to an early d eath, The CLN3 locus which is involved in Batten disease had been loca lized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288, D16S299, and D16S298, making carrier detection and prenatal diagnosis by haplot ype analysis possible, For the purpose of carrier detection, haplotype s from Dutch Batten patients and their families were constructed, Most patients share the same D16S298 allele, suggesting the presence of a founder effect in the Dutch population, In a large inbred Dutch family , in which Batten disease occurs with high frequency, haplotype analys is has been carried out with high accuracy for carrier detection. (C) 1995 Wiley-Liss, Inc.