Hm. Mitchison et al., GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D165288-D165383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION, Genomics, 22(2), 1994, pp. 465-468
CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis (JNCL
) or Batten disease, has been localized by genetic linkage analysis to
chromosome 169 between loci D165297 and D16S57. We have now further r
efined the localization of CLN3 by haplotype analysis using two new mi
crosatellite markers from loci D16S383 and SPN in the D16S297-D16S57 i
nterval on a larger collaborative family resource consisting of 142 JN
CL pedigrees. Crossover events in 3 maternal meioses define new flanki
ng markers for CLN3 and localize the gene to the interval at 16p12.1-p
11.2 between D16S288 and D16S383, which corresponds to a genetic dista
nce of 2.1 cM. Within this interval 4 microsatellite loci are in stron
g linkage disequilibrium with CLN3, and extended haplotype analysis of
the associated alleles indicates that CLN3 is in closest proximity to
loci D16S299 and D16S298. (C) 1994 Academic Press, Inc.