A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
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.
Cader
M Z
MZ
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Steckley
J L
JL
Dyment
D A
DA
McLachlan
R S
RS
Ebers
G C
GC
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D016678:Genome / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D040582:Inheritance Patterns; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014717:Vertigo / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology
D005819:Genetic Markers