caa a22 4500 467983909 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195818 doi (NATIONALLICENCE)springer-10.1007/BF00195818 Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics [Elektronische Daten] [J. Serre, B. Simon-Bouy, E. Mornet, B. Jaume-Roig, A. Balassopoulou, M. Schwartz, A. Taillandier, J. Boué, A. Boué] Summary: The prenatal diagnosis of cystic fibrosis is now routinely performed by using two probes tightly linked to the CF locus (XV2C and KM19). These probes have been shown to exhibit a strong linkage disequilibrium with the CF locus. Our data (103 families) have been pooled with other French data (237 families). They are consistent with the hypothesis of a unique ancestral mutation initially associated with a B (D1E2) restriction fragment length polymorphism (RFLP) haplotype, subsequently reassociated by cross-over with A, C or D haplotypes. Assuming such an hypothesis, the mutation is supposed to be 3000-6000 years old, depending on generation length and the true recombination ratio between the KM19 and CF loci. Up-to-date Spanish, Danish and Greek data are reported together with other previously published population data in order to discuss the geographic origin and age of the mutation in Europe. The action of selection in terms of heterozygote advantage and distorsion of segregation is discussed. Springer-Verlag, 1990 Serre J. Unité de Recherches d'Epidémiologie Génétique, INSERM U. 155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Simon-Bouy B. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Mornet E. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Jaume-Roig B. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Balassopoulou A. First Department of Internal Medicine, University of Athens, Laikon General Hospital, GR-115 27, Athens, Greece aut Schwartz M. Department of Pediatrics, University Hospital, Rigshospitalet, Blegdamsvej 9, DK-21000, Copenhagen, Denmark aut Taillandier A. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Boué J. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Boué A. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut Human Genetics Springer-Verlag 84/5(1990-04-01), 449-454 0340-6717 84:5<449 1990 84 439 https://doi.org/10.1007/BF00195818 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195818 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Serre J. Unité de Recherches d'Epidémiologie Génétique, INSERM U. 155, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Simon-Bouy B. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Mornet E. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Jaume-Roig B. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Balassopoulou A. First Department of Internal Medicine, University of Athens, Laikon General Hospital, GR-115 27, Athens, Greece aut NATIONALLICENCE 700 1- Schwartz M. Department of Pediatrics, University Hospital, Rigshospitalet, Blegdamsvej 9, DK-21000, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Taillandier A. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Boué J. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 700 1- Boué A. Unité de Recherches Génétique et Pathologie Foetale, INSERM U. 73, Château de Longchamp, Bois de Boulogne, F-75016, Paris, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 449-454 0340-6717 84:5<449 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer