Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira,

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Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira,

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Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity Maria do Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka, Pedro Mendonça, José Barros, Paula Coutinho, Jorge Sequeiros, Michel Koenig The American Journal of Human Genetics Volume 68, Issue 2, Pages 501-508 (February 2001) DOI: 10.1086/318191 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Simplified pedigrees of the families with AOA that show linkage to 9p13, and of family AOAP9. Markers are shown, from top to bottom, in their pter-qter order (from GeneMap'99). Haplotypes linked to the disease are boxed, and homozygosity in patients is shaded in gray. Distance (cM) to the previous marker is indicated before each marker (Fondation Jean Dausset–CEPH; The Sanger Centre). Markers that were part of the initial whole-genome screening are underlined. nt=not tested. The 5′ allele of D9S1791 is intermediate between alleles 5 and 6 (a single-nucleotide variation). The American Journal of Human Genetics 2001 68, 501-508DOI: (10.1086/318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes in families AOAP1, -P4, -P5, -P7, -P11, and -P9 and in AOAJ1 and -J2. Homozygous alleles are indicated only once per family. Alleles homozygous by descent are in boldface. The shared haplotypes are boxed and shaded in gray. Alleles that might belong to the founding haplotypes are boxed with dotted lines. Allele 13 from marker D9S1817 (in family AOAP5) might diverge from the founding haplotype by recombination or might derive from the founding allele (12) by slippage mutation of the marker. Phase in family AOAJ1 could not be inferred, since samples of the parents were not available. The dotted box above AOAJ1 and -J2 indicates that one haplotype of AOAJ1 might be identical to the homozygous AOAJ2 haplotype. The American Journal of Human Genetics 2001 68, 501-508DOI: (10.1086/318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Geographical distribution, on the Portuguese mainland, of families with AOA. Districts where the survey is already completed are shaded in gray. Family AOAP13 is not represented, because of its African (Cabo Verde) origin. The three families in the Braga region that show linkage to 9p are AOAP4, -P7, and -P11, which share the largest region of linkage disequilibrium (fig. 2). The American Journal of Human Genetics 2001 68, 501-508DOI: (10.1086/318191) Copyright © 2001 The American Society of Human Genetics Terms and Conditions