caa a22 4500 46798588X CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194217 doi (NATIONALLICENCE)springer-10.1007/BF00194217 Variability in expression of common fragile sites: in search of a new criterion [Elektronische Daten] [Diane Jordan, Trudy Burns, James Divelbiss, Robert Woolson, Shivanand Patil] Summary: Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs of like-sexed twins, (2) four unaffected von HippelLindau (VHL) family members, and (3) six patients affected with VHL disease. Substantial differences were present in the numbers of sites considered positive by these criteria. While some of this variability can be attributed to technical factors, our data illustrate the problems in comparing results from different studies to assess the significance of fragile sites. A recently published criterion is based upon the Poisson distribution. We found this criterion to be flawed in its presentation, and furthermore, the Poisson distribution did not provide an adequate approximation to our data. We propose here an alternative approach based upon the negative binomial distribution. Springer-Verlag, 1990 Jordan Diane Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut Burns Trudy Department of Preventive Medicine and Environmental Health, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut Divelbiss James Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut Woolson Robert Department of Preventive Medicine and Environmental Health, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut Patil Shivanand Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut Human Genetics Springer-Verlag 85/5(1990-10-01), 462-466 0340-6717 85:5<462 1990 85 439 https://doi.org/10.1007/BF00194217 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194217 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jordan Diane Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Burns Trudy Department of Preventive Medicine and Environmental Health, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Divelbiss James Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Woolson Robert Department of Preventive Medicine and Environmental Health, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Patil Shivanand Department of Pediatrics, The University of Iowa College of Medicine, 52242, Iowa City, IA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 462-466 0340-6717 85:5<462 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer