Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1

Genomics. 1995 Jan 20;25(2):433-5. doi: 10.1016/0888-7543(95)80043-l.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • Crossing Over, Genetic
  • Cuba / epidemiology
  • DNA, Satellite / genetics
  • Female
  • Founder Effect
  • Genes*
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Polymerase Chain Reaction
  • Spinocerebellar Degenerations / epidemiology
  • Spinocerebellar Degenerations / genetics*


  • DNA, Satellite