Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni,

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Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni, Claudia Beu Volpato, James F. Gusella, Christine Klein, Giorgio Casari, Alessandro De Grandi, Peter P. Pramstaller The American Journal of Human Genetics Volume 79, Issue 4, Pages 716-723 (October 2006) DOI: 10.1086/507875 Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Results of the genomewide scan for each chromosome. The black curve represents NPL scores, the gray curve represents HLOD scores, and the dotted curve represents STR marker informativity. Genetic distances are based on the deCODE Genetic map. The American Journal of Human Genetics 2006 79, 716-723DOI: (10.1086/507875) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 1 Results of the genomewide scan for each chromosome. The black curve represents NPL scores, the gray curve represents HLOD scores, and the dotted curve represents STR marker informativity. Genetic distances are based on the deCODE Genetic map. The American Journal of Human Genetics 2006 79, 716-723DOI: (10.1086/507875) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 2 Ten-generation genealogy of the 16 affected individuals of families S01, S05, and S016 and 2q locus haplotypes. Patients with idiopathic RLS are indicated by blackened symbols; one individual of family S01 with uncertain disease status is indicated by a symbol with the bottom right corner blackened; RLS suspected by family history is indicated by a dot; examined individuals are denoted by a bar. Disease status of individuals indicated with a question mark was set as “unknown” for one healthy member of family S01 because his age was lower than the mean age at onset plus 1 SD in this family and was set as “unknown” for four unaffected members of families S05 and S016 because they participated only in the first phase of the phenotype assessment. For computational reasons, one consanguinity loop had to be broken in the linkage analysis. The arrow depicts the common founder couple. The disease haplotype is denoted by the blackened vertical bar; the normal haplotype is marked by an unblackened vertical bar. The inset shows marker map positions and allele frequencies (freq). The American Journal of Human Genetics 2006 79, 716-723DOI: (10.1086/507875) Copyright © 2006 The American Society of Human Genetics Terms and Conditions

Figure 3 HLOD scores and −log(P value) of NPL scores for markers in the 2q region after fine mapping. The black line indicates the −log(P value) of NPL scores, and the gray line indicates the HLOD score. Marker D2S311* is at the same position as marker D2S2392, marker D2S2321* shares the same position as markers D2S2242 and D2S2208, and marker D2S1369* is close to markers D2S154, D2S2178, D2S2274, and D2S157; thus, these additional markers are not represented on the graph. The American Journal of Human Genetics 2006 79, 716-723DOI: (10.1086/507875) Copyright © 2006 The American Society of Human Genetics Terms and Conditions