Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype Karen M. Cerosaletti, Ethan Lange, Heather.

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Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype Karen M. Cerosaletti, Ethan Lange, Heather M. Stringham, Corry M.R. Weemaes, Dominique Smeets, B. Sölder, B.H. Belohradsky, A. Malcolm R. Taylor, Pamela Karnes, Alison Elliott, Kenshi Komatsu, Richard A. Gatti, Michael Boehnke, Pat Concannon The American Journal of Human Genetics Volume 63, Issue 1, Pages 125-134 (July 1998) DOI: 10.1086/301927 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 NBS pedigrees. Eleven families with characteristic symptoms of NBS were ascertained from the United States, Poland, Britain, Spain, The Netherlands, Germany, and Canada. A family's complementation-group assignment, V1 or V2, is indicated if known. For families NBS1, NBS6, and NBS16, DNA was available only from the affected individuals. For family NBS18, DNA was available from individuals NBS1801 and NBS1803. The American Journal of Human Genetics 1998 63, 125-134DOI: (10.1086/301927) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint linkage analysis of the NBS locus and markers at 8q21. Seven NBS families—namely, NBS1, NBS6, NBS9, NBS11, NBS12, NBS13, and NBS14—were genotyped for 13 microsatellite markers at 8q21. Multipoint linkage analysis was performed by use of the GENEHUNTER linkage-analysis program. Map order and distances were obtained from the Généthon genetic map. “D8S271/S273” represents the cluster of markers D8S271-D8S1707-D8S273, and “D8S1811/S270” represents the cluster of markers D8S88-D8S1724-D8S1811-D8S1146-AFMa041xg5-D8S270-D8S1818. The American Journal of Human Genetics 1998 63, 125-134DOI: (10.1086/301927) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Radiation-hybrid map of markers at 8q21. Ten markers between D8S271 and D8S1818 were typed in the Stanford G3 and TNG3 radiation-hybrid panels, and the results were analyzed by performance of a joint analysis with the RHMAP program. A 1,000:1 framework map was established for the six loci indicated in boldface type. The distances calculated for this map, in both radiation-hybrid panels, are shown to the right. The location of D8S1811, relative to D8S1724, in the framework map is indicated to the left, with the most likely position, between D8S1724 and D8S88, represented by a likelihood ratio of 1.0 and the next-most-favored location represented by a likelihood ratio of 393.7. The American Journal of Human Genetics 1998 63, 125-134DOI: (10.1086/301927) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Haplotypes of NBS affecteds, at 8q21. Haplotypes for 14 NBS affecteds were constructed by use of the 10 markers (shown at left) that were ordered unambiguously in the genetic and radiation-hybrid maps. The specific alleles detected at each marker are shown for each individual, and parental chromosomes are boxed. Truncations of the boxes indicate genetic recombination events that excluded linkage. The conserved founder haplotype identified on chromosomes carrying the 15 allele at D8S1811 is indicated by gray shading. Individual markers within this ancestral haplotype that differ by a single repeat length are indicated by stippling. The arrowheads indicate inferred ancestral recombination events that appear to demarcate the minimal region encoding the NBS gene. The American Journal of Human Genetics 1998 63, 125-134DOI: (10.1086/301927) Copyright © 1998 The American Society of Human Genetics Terms and Conditions