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Refined genetic mapping of juvenile‐onset neuronal ceroid‐lipofuscinosis on chromosome 16
Author(s) -
Mitchison H. M.,
Williams R. E.,
McKay T. R.,
Callen D. F.,
Thompson A. D.,
Mulley J. C.,
Stallings R. L.,
Hildebrand C. E.,
Moyzis R. K.,
Järvelä I.,
Peltonen L.,
Haines J.,
Sutherland G. R.,
Gardiner R. M.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710278
Subject(s) - linkage disequilibrium , genetics , locus (genetics) , pedigree chart , biology , gene mapping , chromosome , batten disease , human genetics , neuronal ceroid lipofuscinosis , allele , gene , haplotype
Conclusion We propose that the most likely location for CLN3 is within the interval between loci D16S297 and D16S57 on the proximal portion of the short arm of chromosome 16. The position of the CLN3 gene could be further refined by the use of new polymorphic markers isolated within this interval. We have preliminary data indicating strong linkage disequilibrium with the disease for two markers, D16S298 and D16S299, and we find no recombination between these loci in the CEPH pedigrees (Thompson, Callen, Mitchison and Gardiner, unpublished). We therefore have a good indication that within our expected interval CLN3 is within close proximity of the locus D16S298/299.