A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

A Nystuen; P J Benke; J Merren; E M Stone; V C Sheffield

doi:10.1093/hmg/5.4.525

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A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

Journal article

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Peer reviewed

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

A Nystuen, P J Benke, J Merren, E M Stone and V C Sheffield

Human molecular genetics, Vol.5(4), pp.525-531

04/1996

DOI: 10.1093/hmg/5.4.525

PMID: 8845847

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Abstract

A non-progressive recessive cerebellar ataxia was identified in a highly inbred Cayman island population. Cayman cerebellar ataxia is characterized by marked psychomotor retardation, and prominent cerebellar dysfunction manifested by nystagmus, intention tremor, dysarthric speech, and an ataxic gait. In this study, we identify linkage to chromosome 19p 13.3 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.

Data Interpretation, Statistical

Humans

West Indies

Male

Feasibility Studies

Linkage Disequilibrium

Cerebellar Ataxia - physiopathology

Homozygote

Chromosomes, Human, Pair 19

Animals

Cerebellar Ataxia - genetics

Pedigree

DNA

Female

Details

Title: Subtitle: A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
Creators: A Nystuen - Department of Pediatrics, University of Iowa, Iowa City 52242, USA
P J Benke
J Merren
E M Stone
V C Sheffield
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.5(4), pp.525-531
DOI: 10.1093/hmg/5.4.525
PMID: 8845847
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS H033199 / PHS HHS
Language: English
Date published: 04/1996
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979903102771

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