Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation.
Mitchison
H M
HM
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
Thompson
A D
AD
Mulley
J C
JC
Kozman
H M
HM
Richards
R I
RI
Callen
D F
DF
Stallings
R L
RL
Doggett
N A
NA
Attwood
J
J
McKay
T R
TR
D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D004276:DNA, Satellite / Q000235:genetics*; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D004276:DNA, Satellite; D005819:Genetic Markers