Linkage relationships and allelic associations of the cystic fibrosis locus and four marker loci |
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| Authors: | J Schmidtke M Krawczak M Schwartz M Alkan M Bonduelle E Bühler M Chemke T Darnedde J Domagk W Engel D Frey K Fryburg D Halley J Hundrieser L Ladanyi I Libaers W Lissens M Mächler N J Malik J Morreau V Neubauer B Oostra B Pape J E Poncin A Schinzel P Simon F K Trefz B Tümmler G Vassart R Voss |
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| Institution: | (1) Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400 Göttingen, Federal Republic of Germany;(2) Section of Clinical Genetics, 4062 Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark;(3) Baster Kinderspital, Römergasse 8, CH-4005 Basel, Switzerland;(4) Institute of Medical Genetics, Vrije Universiteit, Laarbeeklaan 103/E, B-1090 Bruxelles, Belgium;(5) Kaplan Hospital, IL-76100 Rehovot, Israel;(6) Zentrum für Biochemie II, Konstanty-Gutschow-Strasse 8, D-3000 Hannover 61, Federal Republic of Germany;(7) Institut für Humangenetik, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, D-3000 Hannover 61, Federal Republic of Germany;(8) Kinderklinik der Universität, Humboldtallee 38, D-3400 Göttingen, Federal Republic of Germany;(9) Institut für Medizinische Genetik der Universität, Rämistrasse 74, CH-8001 Zürich, Switzerland;(10) Department of Clinical Genetics, Erasmus University, P.O. Box 1738, NL-3000 DR Rotterdam, The Netherlands;(11) Department of Cell Biology and Genetics, Erasmus University, P.O. Box 1738, NL-3000 DR Rotterdam, The Netherlands;(12) Department of Clinical Chemistry, University of Liege, Sart-Tilman by Liege 1m, B-4000 Liege, Belgium;(13) Institut de Recherche Interdisciplinaire en Biologie Humaine et Nucléaire, Université Libre de Bruxelles, Route de Lennik 808, B-1070 Bruxelles, Belgium;(14) Kinderklinik der Universität, Im Neuenheimer Feld 150, D-6900 Heidelberg 1, Federal Republic of Germany;(15) Hadassah University Hospital, P.O. Box 12000, IL-91120 Jerusalem, Israel |
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| Abstract: | Summary The linkage relationships between the cystic fibrosis (CF) locus and four marker loci (MET-H, MET-D, D7S8 and D7S16), allelic associations between these loci and the extent of informativity at these marker loci were investigated in a sample of 206 families with at least one child affected by CF. The data were contributed by 11 laboratories from Europe and Israel. The maximum lod scores and recombination frequency estimates (
) (and confidence limits of  ) were: 18.3 at
=0.007(0.001–0.038) for CF vs. MET, 11.0 at
(0.001–0.068) for CF vs. D7S8, and 5.7 at
=0.0(0.0–0.064) for CF vs. D7S16. A gene order of CF-MET-D7S8 was best supported by the data, but its preference to the order D7S8-CF-MET is mainly based on one single family. There are significant allelic associations between CF, MET, D7S8 and D7S16; these allelic associations affect the risk of random individuals to be carriers of CF. |
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