An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus John B Vincent, Maria L. Neves-Pereira,

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An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus John B Vincent, Maria L. Neves-Pereira, Andrew D. Paterson, Etsuko Yamamoto, Sagar V. Parikh, Fabio Macciardi, Hugh M.D. Gurling, Steve G. Potkin, Carlos N. Pato, Antonio Macedo, Maria Kovacs, Marilyn Davies, Jeffrey A. Lieberman, Herbert Y. Meltzer, Arturas Petronis, James L. Kennedy The American Journal of Human Genetics Volume 66, Issue 3, Pages 819-829 (March 2000) DOI: 10.1086/302803 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Southern blot of EcoRI-digested genomic DNA hybridized with a large (1.5–3-Kb), nonspecific CAG/CTG repeat probe. Lane 7 shows a strong band at 2.8–3 Kb (arrow) for individual A7. Lanes 1–6 and 8 contain DNA from other BPAD and SCZ individuals. The American Journal of Human Genetics 2000 66, 819-829DOI: (10.1086/302803) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 RED on primary λgt10 clones (a–j) picked from genomic library (screened with CAG/CTG probe) generated from individual A7 (RED from genomic DNA: lane number). Myotonic dystrophy positive control is shown in lane DM. Size marker (Sequamark size ladder; Research Genetics) is shown in lane M. The American Journal of Human Genetics 2000 66, 819-829DOI: (10.1086/302803) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Southern hybridization analysis, which was performed with use of (A) EcoRI and (B) HindIII on BPAD proband A7 (lane 1), sibling of A7 (lane 2), and unaffected individuals (lanes 3–6) and EcoRI (C) on SCZ trio, proband (lane P), father (lane F), and mother (lane M) and (D) on CEPH pedigree 1334. Family member CEPH numbers shown (bottom). Lane S represents standard control DNA. The American Journal of Human Genetics 2000 66, 819-829DOI: (10.1086/302803) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 A, Distribution of alleles for different ethnic groups (1,400 Caucasian, 141 Asian, and 125 black unrelated individuals from the combined patient-control sample). B, SCA8 allele distribution for 497 unaffected Caucasian control individuals and 901 Caucasian psychosis and depression individuals (SCZ [n=390], schizoaffective disorder [n=15], BPADI [n=357], BPADII [n=56], borderline personality disorder [n=14], juvenile-onset depression [n=40], and major psychosis [n=29]). The American Journal of Human Genetics 2000 66, 819-829DOI: (10.1086/302803) Copyright © 2000 The American Society of Human Genetics Terms and Conditions