Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome.

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Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome 1 Gonçalo R. Abecasis, Rachel A. Burt, Diana Hall, Sylvia Bochum, Kimberly F. Doheny, S. Laura Lundy, Marie Torrington, J. Louw Roos, Joseph A. Gogos, Maria Karayiorgou The American Journal of Human Genetics Volume 74, Issue 3, Pages 403-417 (March 2004) DOI: 10.1086/381713 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Informative pedigrees included in linkage analyses. Black coloring indicates affected individuals in LC I, and dark and light gray coloring indicate individuals in LCs II and III, respectively. The American Journal of Human Genetics 2004 74, 403-417DOI: (10.1086/381713) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Single-point analysis results. Single-point Kong and Cox (1997) nonparametric LOD scores calculated using the SALL scoring statistic are shown. Results are summarized throughout the genome for three phenotypic LCs: LC I (circles), LC II (triangles), and LC III (squares). The American Journal of Human Genetics 2004 74, 403-417DOI: (10.1086/381713) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Multipoint analysis results. Multipoint Kong and Cox (1997) nonparametric LOD scores calculated using the SALL scoring statistic are shown. Results are summarized throughout the genome for three phenotypic LCs: LC I (solid black line), LC II (dashed line), and LC III (solid gray line). The American Journal of Human Genetics 2004 74, 403-417DOI: (10.1086/381713) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 4 Comparison of original and fine-mapping results. Multipoint Kong and Cox (1997) nonparametric LOD scores calculated using the SALL scoring statistic are shown. Results are summarized for three regions exhibiting strongest evidence for linkage, on chromosomes 1, 9, and 13. The three phenotypic LCs are LC I (solid black lines), LC II (lines with long dashes), and LC III (lines with short dashes). The American Journal of Human Genetics 2004 74, 403-417DOI: (10.1086/381713) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 5 Isodisomic individual. A, Chromosome 1 genotypes for isodisomic individual and two parents. The isodisomic chromosome is shaded in black, and asterisks (*) indicate markers where mother and offspring genotypes are incompatible. B, Shortest connection between individuals in LC I and a single ancestor who emigrated to South Africa ∼12 generations before present (Karayiorgou et al. 2004). Most affected individuals in our sample are connected to this founder through multiple descent routes. Twelve small pedigrees suitable for linkage analysis and included in our sample are boxed in the diagram. The cluster includes additional informative families when LCs II and III are used. The isodisomic individual is indicated by an arrow (↑). The American Journal of Human Genetics 2004 74, 403-417DOI: (10.1086/381713) Copyright © 2004 The American Society of Human Genetics Terms and Conditions