caa a22 4500 397573839 CHVBK 20180308164849.0 cr unu---uuuuu 161202e199604 xx s 000 0 eng 10.1093/hmg/5.4.525 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.4.525 A Cerebellar Ataxia Locus Identified by DNA Pooling to Search for Linkage Disequilibrium in an Isolated Population from the Cayman Islands [Elektronische Daten] [Arne Nystuen, Arne Nystuen, Paul J. Benke, Joy Merren, Edwin M. Stone, Val C. Sheffield] A non-progressive recessive cerebellar ataxia was identified in a highly inbred Cayman Island population. Cayman cerebellar ataxia is characterized by marked pyschomotor retardation, and prominent cerebellar dysfunction manifested by nystagmus, intention tremor, dysarthric speech, and an ataxic gait. In this study, we identify linkage to chromosome 19p13.3 using pooled DNA samples of affected individuals from an isolated population as PCR template for a genome wide screen with short tandem repeat markers. Our data demonstrate that the DNA pooling approach to identify disease gene loci is feasible using individuals from isolated populations in which kindred relationships are highly complex and exact relationships between all affected individuals are not known. Genetic fine mapping demonstrates that the genetic disease interval is approximately 9 cM, but contained within a small physical region. The existence of multiple individuals that are recombinant with flanking markers indicates that the disease interval can be further narrowed with additional markers. © 1996 Oxford University Press Nystuen Arne Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA Nystuen Arne Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut Benke Paul J. Mailman Center for Child Development, University of Miami School of Medicine, Miami, FL 33101, USA aut Merren Joy Grand Cayman Hospital, Grand Cayman, British West Indies aut Stone Edwin M. Department of Ophthalmology, University of Iowa, Iowa City, IA 52242, USA aut Sheffield Val C. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut Human Molecular Genetics Oxford University Press 5/4(1996-04), 525-531 0964-6906 5:4<525 1996 5 hmg https://doi.org/10.1093/hmg/5.4.525 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.4.525 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Nystuen Arne Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA NATIONALLICENCE 700 1- Nystuen Arne Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 700 1- Benke Paul J. Mailman Center for Child Development, University of Miami School of Medicine, Miami, FL 33101, USA aut NATIONALLICENCE 700 1- Merren Joy Grand Cayman Hospital, Grand Cayman, British West Indies aut NATIONALLICENCE 700 1- Stone Edwin M. Department of Ophthalmology, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 700 1- Sheffield Val C. Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/4(1996-04), 525-531 0964-6906 5:4<525 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford