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Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

https://arctichealth.org/en/permalink/ahliterature211825
Source
Am J Hum Genet. 1996 Jun;58(6):1247-53
Publication Type
Article
Date
Jun-1996
Author
K. Virtaneva
J. Miao
A L Träskelin
N. Stone
J A Warrington
J. Weissenbach
R M Myers
D R Cox
P. Sistonen
A. de la Chapelle
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
Am J Hum Genet. 1996 Jun;58(6):1247-53
Date
Jun-1996
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
Child
Chromosome Mapping
Chromosomes, Human, Pair 21
Epilepsies, Myoclonic - genetics
Female
Finland
Genes, Recessive
Genetic Linkage
Genetic markers
Haplotypes
Humans
Male
Molecular Sequence Data
Pedigree
Polymorphism, Genetic
Abstract
The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the approximately 175-kb interval between the markers D21S2040 and D21S1259.
Notes
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PubMed ID
8651302 View in PubMed
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