caa a22 4500 46798574X CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194234 doi (NATIONALLICENCE)springer-10.1007/BF00194234 Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population [Elektronische Daten] [Pekka Nokelainen, Leena Alanen-Kurki, Robert Winqvist, Björn Falck, Hannu Somer, Jaakko Leisti, Keith Johnson, Marja-Liisa Savontaus, Leena Peltonen] 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. Springer-Verlag, 1990 Nokelainen Pekka Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 30, Helsinki, Finland aut Alanen-Kurki Leena Department of Medical Genetics, University of Turku, Turku, Finland aut Winqvist Robert Department of Clinical Genetics, Oulu University Central Hospital, Oulu, Finland aut Falck Björn Department of Clinical Neurophysiology, University Central Hospital of Turku, Turku, Finland aut Somer Hannu Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland aut Leisti Jaakko Department of Clinical Genetics, Oulu University Central Hospital, Oulu, Finland aut Johnson Keith Department of Anatomy, Charing Cross and Westminster Medical School, London, UK aut Savontaus Marja-Liisa Department of Medical Genetics, University of Turku, Turku, Finland aut Peltonen Leena Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 30, Helsinki, Finland aut Human Genetics Springer-Verlag 85/5(1990-10-01), 541-545 0340-6717 85:5<541 1990 85 439 https://doi.org/10.1007/BF00194234 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194234 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nokelainen Pekka Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 30, Helsinki, Finland aut NATIONALLICENCE 700 1- Alanen-Kurki Leena Department of Medical Genetics, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Winqvist Robert Department of Clinical Genetics, Oulu University Central Hospital, Oulu, Finland aut NATIONALLICENCE 700 1- Falck Björn Department of Clinical Neurophysiology, University Central Hospital of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Somer Hannu Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland aut NATIONALLICENCE 700 1- Leisti Jaakko Department of Clinical Genetics, Oulu University Central Hospital, Oulu, Finland aut NATIONALLICENCE 700 1- Johnson Keith Department of Anatomy, Charing Cross and Westminster Medical School, London, UK aut NATIONALLICENCE 700 1- Savontaus Marja-Liisa Department of Medical Genetics, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Peltonen Leena Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, 30, Helsinki, Finland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 541-545 0340-6717 85:5<541 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer