caa a22 4500 46798557X CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428289 doi (NATIONALLICENCE)springer-10.1007/BF02428289 Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families [Elektronische Daten] [Milan Macek Jr., Vera Vavrová, Ingolf Böhm, Manfred Stuhrmann, André Reis, Ruzena Duspivová, Milan Macek, Karl Sperlinge, Michael Krawczak, Jörg Schmidtke] Summary: This study analyses distribution patterns of the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the ΔF508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between ΔF508 and all markers tested. Springer-Verlag, 1990 Macek Jr. Milan Department of Clinical Biochemistry, Charles University, Karlovo nám.32, CS-12111, Prague 2, Czechoslovakia aut Vavrová Vera Institute for Child Development Research, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut Böhm Ingolf Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut Stuhrmann Manfred Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut Reis André Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut Duspivová Ruzena Department of Medical Genetics, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut Macek Milan Institute for Child Development Research, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut Sperlinge Karl Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut Krawczak Michael Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut Schmidtke Jörg Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut Human Genetics Springer-Verlag 85/4(1990-09-01), 417-418 0340-6717 85:4<417 1990 85 439 https://doi.org/10.1007/BF02428289 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428289 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Macek Jr Milan Department of Clinical Biochemistry, Charles University, Karlovo nám.32, CS-12111, Prague 2, Czechoslovakia aut NATIONALLICENCE 700 1- Vavrová Vera Institute for Child Development Research, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut NATIONALLICENCE 700 1- Böhm Ingolf Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut NATIONALLICENCE 700 1- Stuhrmann Manfred Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut NATIONALLICENCE 700 1- Reis André Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut NATIONALLICENCE 700 1- Duspivová Ruzena Department of Medical Genetics, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut NATIONALLICENCE 700 1- Macek Milan Institute for Child Development Research, Pediatric Faculty, Charles University, V úvalu 54, CS-15600, Prague 5, Czechoslovakia aut NATIONALLICENCE 700 1- Sperlinge Karl Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut NATIONALLICENCE 700 1- Krawczak Michael Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Germany aut NATIONALLICENCE 700 1- Schmidtke Jörg Institut für Humangenetik, Freie Universität, Heubnerweg 6, D-1000, Berlin 19, Germany aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 417-418 0340-6717 85:4<417 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer