Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.
A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguín SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at theta = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguín province.
Hernández
A
A
Department of Neurology, University Hospital, Düsseldorf, Germany.
Magariño
C
C
Gispert
S
S
Santos
N
N
Lunkes
A
A
Orozco
G
G
Heredero
L
L
Beckmann
J
J
Auburger
G
G
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003434:Crossing Over, Genetic; D003462:Cuba / Q000453:epidemiology; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D018703:Founder Effect; D005796:Genes; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013132:Spinocerebellar Degenerations / Q000453:epidemiology / Q000235:genetics*
D004276:DNA, Satellite