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. 1996 Jun;58(6):1247–1253.

Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q

Kimmo Virtaneva, Jinmin Miao, Ann-Liz Träskelin, Nancy Stone, Janet A Warrington, Jean Weissenbach, Richard M Myers, David R Cox, Pertti Sistonen, Albert de la Chapelle, Anna-Elina Lehesjoki
PMCID: PMC1915057  PMID: 8651302

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 ~175-kb interval between the markers D21S2040 and D21S1259.

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Selected References

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