Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q
Journal Article
·
· American Journal of Human Genetics
OSTI ID:446941
- Univ. of Helsinki (Finland); and others
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. 26 refs., 2 figs., 4 tabs.
- OSTI ID:
- 446941
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 58; ISSN 0002-9297; ISSN AJHGAG
- Country of Publication:
- United States
- Language:
- English
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