© 1993 Oxford University Press
RESEARCH-ARTICLE |
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping
1 Department of Medical Genetics, Folkhalsan Institute of Genetics 00250 Helsinki, Finland 2 Department of Virology 00014 University of Helsinki, Finland 3 Department of Medical Genetics, the Finnish Population and Family Welfare Federation 00100 Helsinki, Finland 4 Finnish Red Cross Blood Transfusion Service 00310 Helsinki, Finland 5 Whrtehead Institute for Biomedical Research Cambridge, MA 02142 Department of Biology, Massachusetts Institute of Technology Cambridge, MA 02139, USA
*Department of Medical Genetics, PO Box 21, Haartmaninkatu 3, SF-00014 University of Helsinki, Finland
Received March 22, 1993; Revised June 4, 1993; Accepted June 4, 1993
The gene for Progressive myoclonus epilepsy of Unverricht- Lundborg type (EPM1) has previously been mapped by linkage to markers on chromosome 21q22.3. By analyzing crossover events in multiplex disease families with newly detected markers from the region we were able to narrow the localization of EPM1 to an interval of approximately 7 cM, between locl D21S212 and CD18. To further refine the localization of the EPM1 gene we applied linkage disequilibrium mapping In 38 Finnish families, consisting of 12 with multiple affected children and 26 with a single affected child. Based on existing knowledge about the structure and history of the Isolated Finnish population, we estimated genetic distances based on strong linkage disequilibrium to several marker loci and found that EPM1 resides within 0.3 cM or less of loci PFKL, D21S25 and D21S154. As this genetic distance translates into a likely physical distance of 300 kb or less, these data provide a basis for highly focused attempts to clone EPM1.
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