A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
basic_science · Level V
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Abstract
Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene.
Medical subject headings
- Ataxia
- Chromosomes, Human, Pair 1
- Genetic Linkage
- Genetic Markers
- Genetic Predisposition to Disease
- Mutation