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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci
Genomics, Volume 16, No. 2, Year 1993
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Description
Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of auto fluorescent 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. © 1993 Academic Press, Inc.
Authors & Co-Authors
Mitchison, Hannah M.
United Kingdom, London
Ucl Medical School
Thompson, Andrew D.
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Mulley, John C.
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Kozman, Helen M.
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Richards, Robert I.
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Callen, David Frederick
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Stallings, Ray L.
United States, Los Alamos
Los Alamos National Laboratory
Doggett, Norman A.
United States, Los Alamos
Los Alamos National Laboratory
Attwood, John
United Kingdom, London
Medical Research Council
McKay, Tristan R.
United Kingdom, London
Ucl Medical School
Sutherland, Grant R.
South Africa, Adelaide
Obstetrician Women's and Children's Hospital
Gardiner, R. Mark
United Kingdom, London
Ucl Medical School
Statistics
Citations: 42
Authors: 12
Affiliations: 4
Identifiers
Doi:
10.1006/geno.1993.1210
ISSN:
08887543
e-ISSN:
10898646
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health