caa a22 4500 46798512X CHVBK 20180323112529.0 cr unu---uuuuu 170328e19900801xx s 000 0 eng 10.1007/BF00206745 doi (NATIONALLICENCE)springer-10.1007/BF00206745 Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 [Elektronische Daten] [Michael Dean, Jean Amos, Jennifer Lynch, Giovanni Romeo, Marcella Devoto, Ken Ward, Dicky Halley, Ben Oostra, Maurizio Ferrari, Silvia Russo, Bruce Weir, Paula Finn, Francis Collins, Michael Iannuzzi] Summary: Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers correspond to the loci D7S424 and D7S426. These polymorphisms were studied by centers in the U.S., the United Kingdom, the Netherlands, and Italy, using samples from populations throughout Europe and North America. The additional information provided by these probes increased the heterogeneity of the region from 50% to 58% and was essential for a completely informative diagnosis in one family. A very high degree of linkage disequilibrium was found between these markers, which span a distance of approximately 250kb. In addition, linkage disequilibrium with CF was noted. Significant heterogeneity of linkage disequilibrium was found among the populations, both for the marker-marker pairs and between the markers and CF. Springer-Verlag, 1990 Dean Michael Program Resources Inc., Frederick Cancer Research and Development Center, 21701, Frederick, MD, USA aut Amos Jean Boston University School of Medicine, 02148, Boston, MA, USA aut Lynch Jennifer John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Romeo Giovanni Istituto Giannina Gaslini, I-16148, Genoa, Italy aut Devoto Marcella Istituto Giannina Gaslini, I-16148, Genoa, Italy aut Ward Ken University of Utah, 84132, Salt Lake City, UT, USA aut Halley Dicky Erasmus University, NL-300, DR Rotterdam, The Netherlands aut Oostra Ben Erasmus University, NL-300, DR Rotterdam, The Netherlands aut Ferrari Maurizio Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy aut Russo Silvia Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy aut Weir Bruce North Carolina State University, 27695, Raleigh, NC, USA aut Finn Paula Boston University School of Medicine, 02148, Boston, MA, USA aut Collins Francis University of Michigan, 48109, Ann Arbor, MI, USA aut Iannuzzi Michael University of Michigan, 48109, Ann Arbor, MI, USA aut Human Genetics Springer-Verlag 85/3(1990-08-01), 275-278 0340-6717 85:3<275 1990 85 439 https://doi.org/10.1007/BF00206745 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00206745 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dean Michael Program Resources Inc., Frederick Cancer Research and Development Center, 21701, Frederick, MD, USA aut NATIONALLICENCE 700 1- Amos Jean Boston University School of Medicine, 02148, Boston, MA, USA aut NATIONALLICENCE 700 1- Lynch Jennifer John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Romeo Giovanni Istituto Giannina Gaslini, I-16148, Genoa, Italy aut NATIONALLICENCE 700 1- Devoto Marcella Istituto Giannina Gaslini, I-16148, Genoa, Italy aut NATIONALLICENCE 700 1- Ward Ken University of Utah, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Halley Dicky Erasmus University, NL-300, DR Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Oostra Ben Erasmus University, NL-300, DR Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Ferrari Maurizio Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy aut NATIONALLICENCE 700 1- Russo Silvia Istituto Scientificio H. S. Raffaele, I-20132, Milan, Italy aut NATIONALLICENCE 700 1- Weir Bruce North Carolina State University, 27695, Raleigh, NC, USA aut NATIONALLICENCE 700 1- Finn Paula Boston University School of Medicine, 02148, Boston, MA, USA aut NATIONALLICENCE 700 1- Collins Francis University of Michigan, 48109, Ann Arbor, MI, USA aut NATIONALLICENCE 700 1- Iannuzzi Michael University of Michigan, 48109, Ann Arbor, MI, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/3(1990-08-01), 275-278 0340-6717 85:3<275 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer