Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

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Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao, Lin Li, Qiuyun Chen, Qing Wang The American Journal of Human Genetics Volume 74, Issue 5, Pages 876-885 (May 2004) DOI: 10.1086/420772 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Genomewide NPL scan for RLS-susceptibility loci. A total of 404 microsatellite markers spanning the entire human genome were genotyped in 144 individuals from multiplex RLS families. The vertical Y-axis of each plot denotes NPL scores generated by GENEHUNTER. The X-axis represents marker map positions in cM from the telomere of the p arm of each chromosome. The horizontal solid line in each plot corresponds to an NPL score of 3.0. The American Journal of Human Genetics 2004 74, 876-885DOI: (10.1086/420772) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Multipoint LOD-score analysis for markers at the 9p 24.2–22.3 RLS locus. Random walk analysis was done using SimWalk2. Location of marker D9S1779 is arbitrarily set at 0 cM. Other microsatellite markers are scaled on the basis of their absolute distance (in cM) from D9S1779. Multipoint LOD scores are plotted on the ordinate. The dashed line marks an LOD score of 3.0. The American Journal of Human Genetics 2004 74, 876-885DOI: (10.1086/420772) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Haplotype analysis in kindred 40004 affected with RLS. Circles and squares denote females and males, respectively; blackened symbols indicate affected individuals; unblackened symbols indicate normal individuals; the symbol with a slash indicates a deceased individual; and symbols with a question mark indicate an individual with uncertain phenotype. Genotyping results for markers D9S1779, D9S1871, D9S2169, D9S286, D9S168, D9S268, D9S274, D9S1839, D9S162, and D9S1121 are shown under each symbol. Haplotypes were constructed on the basis of the minimum number of recombinations between markers. The disease haplotype shared by all affected individuals is denoted by the blackened vertical bar, and normal haplotype is denoted by an unblackened vertical bar. Recombination events were observed in individuals III-1, III-2, and III-3 and defined the critical RLS gene location as upward from marker D9S162. The American Journal of Human Genetics 2004 74, 876-885DOI: (10.1086/420772) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 Haplotype analysis in kindred 40015 affected with RLS. Data are shown as described in fig. 3. Two recombination events were observed, one in individual II-1 and the other in III-1. The obligate recombination in II-1 defined the RLS gene location as downward from D9S1779. The American Journal of Human Genetics 2004 74, 876-885DOI: (10.1086/420772) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 5 Ideogram of chromosome 9 with Geimsa banding and localization of the 9p24-22 RLS locus. The genetic map with chromosome 9p24-22 markers is shown, and the likely location of the putative RLS gene is indicated by a vertical bar (from D9S1871 to D9S1839). The American Journal of Human Genetics 2004 74, 876-885DOI: (10.1086/420772) Copyright © 2004 The American Society of Human Genetics Terms and Conditions