Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.

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Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra Ott, Raman Sood, Ann Van Auken, Joan Bailey- Wilson, Xiaoguang Wang, Reshma J. Patel, Christiane M. Robbins, Mina Chung, Geralyn Annett, Kenneth Weinberg, Mark S. Borchert, Jeffrey M. Trent, Michael J. Brownstein, J. Timothy Stout The American Journal of Human Genetics Volume 65, Issue 6, Pages 1639-1646 (December 1999) DOI: 10.1086/302656 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Photodocumentation of a patient with DRS, exhibiting incomplete abduction on attempted right or left gaze. The American Journal of Human Genetics 1999 65, 1639-1646DOI: (10.1086/302656) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree of the large DRS family used for linkage analysis. All individuals, with the exception of the deceased and individuals (denoted by a minus sign [−]), were examined for DRS. DNA was prepared from subjects and was genotyped for linkage analysis. Individuals denoted with a plus sign (+) were used to confine the critical disease region (see fig. 5). Individual III-16 was phenotypically classified as “indeterminate.” The American Journal of Human Genetics 1999 65, 1639-1646DOI: (10.1086/302656) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Graph of multipoint LOD scores, between DRS and chromosome 2 markers D2S142, D2S333, D2S335, D2S1238, D2S2314, D2S1244, D2S1245, HOXD13, and D2S138, for the large Mexican family. The American Journal of Human Genetics 1999 65, 1639-1646DOI: (10.1086/302656) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Schematic representation of the genetic map of the region containing the DRS locus. The flanking proximal and distal markers, separated by 17.8 cM, are shown in boldface. The distances (in cM) between the markers D2S160, D2S112, D2S142, D2S2330, D2S333, D2S364, D2S117, D2S382, and D2S396 are underlined. The order of and the genetic distances between markers were obtained from the PE Biosystems ABI PRISM mapping Web page. The American Journal of Human Genetics 1999 65, 1639-1646DOI: (10.1086/302656) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Haplotypes for chromosome 2 markers, for a subset of the large Mexican family with DRS. The order of the DNA markers is shown. The disease-associated alleles are boxed. The critical interval lies between markers D2S2330 and D2S364 and is indicated by the arrows. Two other markers, D2S335 and D2S1244 (not shown), are also within this critical interval. The American Journal of Human Genetics 1999 65, 1639-1646DOI: (10.1086/302656) Copyright © 1999 The American Society of Human Genetics Terms and Conditions