caa a22 4500 467985405 CHVBK 20180323112530.0 cr unu---uuuuu 170328e19900901xx s 000 0 eng 10.1007/BF02428274 doi (NATIONALLICENCE)springer-10.1007/BF02428274 Cystic fibrosis typing with DNA probes and screening for ΔF508 deletion in families from Southern France [Elektronische Daten] [Mireille Claustres, Marie Desgeorges, Paule Kjellherg, Hélène Bellet, Jacques Demaille, Michelle Ramsay] Summary: A sample of 235 individuals from 49 French cystic fibrosis (CF) families with at least one living affected child was typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, and was screened for the ΔF508 mutation. Using a combination of six probes, 44 out of the 49 families were sufficiently informative to enable prenatal diagnosis or carrier determination. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV2c: allele 1; KM19: allele 2), which accounts for about 78% of CF chromosomes in our families. The ΔF508 deletion was present in 64.3% of CF chromosomes. Springer-Verlag, 1990 Claustres Mireille INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut Desgeorges Marie INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut Kjellherg Paule INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut Bellet Hélène INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut Demaille Jacques INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut Ramsay Michelle South African Institute for Medical Research, 2000, Johannesburg, South Africa aut Human Genetics Springer-Verlag 85/4(1990-09-01), 398-399 0340-6717 85:4<398 1990 85 439 https://doi.org/10.1007/BF02428274 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02428274 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Claustres Mireille INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut NATIONALLICENCE 700 1- Desgeorges Marie INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut NATIONALLICENCE 700 1- Kjellherg Paule INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut NATIONALLICENCE 700 1- Bellet Hélène INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut NATIONALLICENCE 700 1- Demaille Jacques INSERM U 249 and Centre de Recherches de Biochimie Macromoléculaire du CNRS UPR 8402, France aut NATIONALLICENCE 700 1- Ramsay Michelle South African Institute for Medical Research, 2000, Johannesburg, South Africa aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/4(1990-09-01), 398-399 0340-6717 85:4<398 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer