Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population |
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| Authors: | Pekka Nokelainen Leena Alanen-Kurki Robert Winqvist Björn Falck Hannu Somer Jaakko Leisti Keith Johnson Marja-Liisa Savontaus Leena Peltonen |
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| Institution: | (1) Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 30 Helsinki, Finland;(2) Department of Medical Genetics, University of Turku, Turku, Finland;(3) Department of Clinical Genetics, Oulu University Central Hospital, Oulu, Finland;(4) Department of Clinical Neurophysiology, University Central Hospital of Turku, Turku, Finland;(5) Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland;(6) Department of Anatomy, Charing Cross and Westminster Medical School, London, UK |
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| Abstract: | Summary Three polymorphic loci APOC2, CKMM and p134C were used to haplotype 15 Finnish dystrophia myotonica (DM) families representing about one third of all DM patients in this isolated population. Compound APOC2 and CKMM haplotypes reveal linkage disequilibrium: 90% of DM chromosomes co-occur with the haplotypes that occur in 31% of normal chromosomes only. The same disequilibrium is present when only polymorphisms occurring at the APOC2 locus are used. Surprisingly, no statistically significant linkage disequilibrium was discovered at the CKMM locus alone. Of the meiotic events, 84% were informative when both APO2 and CKMM loci were used. When studied selectively, 60% of meiotic events were informative at the APOC2 locus, whereas CKMM alone resulted in 65% meiotic informativeness. The distal marker p134C was found to have an unfortunately low information content in our population. |
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