Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
dc.contributor.author | Matsushita, Mark | en_US |
dc.contributor.author | Raskind, W. H. | en_US |
dc.contributor.author | Fink, John K. | en_US |
dc.contributor.author | Bird, Thomas D. | en_US |
dc.contributor.author | Litt, Michael | en_US |
dc.contributor.author | Lipe, Hillary | en_US |
dc.contributor.author | Bolin, Tamara | en_US |
dc.contributor.author | Wolff, John | en_US |
dc.date.accessioned | 2006-09-08T20:08:30Z | |
dc.date.available | 2006-09-08T20:08:30Z | |
dc.date.issued | 1998-01 | en_US |
dc.identifier.citation | Raskind, W. H.; Bolin, Tamara; Wolff, John; Fink, John; Matsushita, Mark; Litt, Michael; Lipe, Hillary; Bird, Thomas D.; (1998). "Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34." Human Genetics 102(1): 93-97. <http://hdl.handle.net/2027.42/42259> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42259 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=9490305&dopt=citation | en_US |
dc.description.abstract | Paroxysmal dystonic choreoathetosis (PDC) is a rare neurological disorder characterized by episodes of involuntary movement, involving the extremities and face, which may occur spontaneously or be precipitated by caffeine, alcohol, anxiety, and fatigue. PDC is transmitted as an autosomal dominant trait with incomplete penetrance. A gene implicated in this paroxysmal disorder has been mapped to a 10–15 cM region on chromosome 2q31–36 in two families. We describe a third family with PDC. Two-point linkage analyses with markers linked to the candidate PDC locus were performed. A maximum two-point LOD score of 4.20 at a recombination fraction of zero was obtained for marker D2S120, confirming linkage to the distal portion of chromosome 2q. The anion exchanger gene, SLC2C, maps to this region, but the family was poorly informative for polymorphic markers within and flanking this candidate gene. Haplotype analysis revealed a critical recombination event that confines the PDC gene to a 5-cM region bounded by the markers D2S164 and D2S377. We compared the haplotype in our family with that in another chromosome 2-linked PDC family, but did not detect a region of shared genotypes. However, identifying a third family whose disease maps to the same region and narrowing the critical region will facilitate identification of the 2q-linked PDC gene. | en_US |
dc.format.extent | 74821 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag; Springer-Verlag Berlin Heidelberg | en_US |
dc.subject.other | Legacy | en_US |
dc.title | Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34 | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan and GRECC, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI 48104, USA, US | en_US |
dc.contributor.affiliationother | Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA, US | en_US |
dc.contributor.affiliationother | Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA, US | en_US |
dc.contributor.affiliationother | Department of Neurology, University of Washington and Seattle Veterans Affairs Medical Center, Seattle, WA 98108, USA, US | en_US |
dc.contributor.affiliationother | Department of Medicine, Division of General Internal Medicine, Box 357720, University of Washington, Seattle, WA 98195, USA Tel.: +1-206-543-3177; Fax: +1-206-616-7366; e-mail: wendyrun@u.washington.edu, US | en_US |
dc.contributor.affiliationother | Departments of Biochemistry and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA, US | en_US |
dc.contributor.affiliationother | Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA, US | en_US |
dc.contributor.affiliationother | Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA, US | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 9490305 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42259/1/439-102-1-93_81020093.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s004390050659 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.