PHYSICAL MAP OF THE REGION CONTAINING THE GENE FOR BATTEN-DISEASE (CLN3)

CLN3 has been mapped genetically to 16p12, to the interval between D16 S288 and D16S383, a sex-averaged genetic distance of 2.1 cM, Analysis of disease haplotypes for four microsatellite markers in this interval , D16S288, D16S299, D16S298, and SPN, has shown significant allelic as sociation between one allele at each of these loci and CLN3. Ah four o f the associated markers were used as nucleation sites in the isolatio n of genomic clones (YACs), A contig was assembled which contains 3 of the 4 associated markers and which confirmed the relative order of th ese markers, Marker D16S272 has been located on the physical map betwe en D16S288 and D16S299. Restriction mapping has demonstrated the locat ion of possible CpG islands. One gene, STP, has been localised on the YAC contig proximal to D16S298 and is therefore a candidate for CLN3, Other genes, including IL4R, SGLT2, and UQCRC2, have been excluded fro m this region. (C) 1995 Wiley-Liss,Inc.