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Refined localization of the Batten disease gene ( CLN3 ) by haplotype and linkage disequilibrium mapping to D16S288‐D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits

10.1002/ajmg.1320570241.abs Haplotype analysis in a collaborative collection of 143 families with juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or Batten (Spielmeyer‐Vogt‐Sjögren) disease has permitted refined localization of the disease gene, CLN3, which was assigned to chromosome 16 in 1989. Recombination events in four maternal meioses delimit new flanking genetic markers for CLN3 which localize the gene to the chromosome interval 16p12.1‐11.2 between microsatellite markers D16S288 and D16S383. This narrows the position of CLN3 to a region of 2.1 cM, a significant reduction from the previous best interval. Using haplotypes, analysis of the strong linkage disequilibrium that exists between genetic markers within the D16S288‐D16S383 interval and CLN3 shows that CLN3 is in closest proximity to loci D16S299 and D16S298. Analysis of markers across the D16S288‐D16S383 region in four families with a variant form of JNCL characterized histologically by cytosomal granular osmiophilic deposits (GROD) has excluded linkage of the gene locus to the CLN3 region of chromosome 16, suggesting that JNCL with GROD is not an allelic form of JNCL. © 1995 Willy‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

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