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- Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil
- Stenio F.P. Duarte, Raquel S. Gestinari, Mário Campos-Jr.,
- Márcia M.G. Pimentel and Marcelo A. Costa Lima
- Human Genetics Service, Department of Cell Biology and Genetics,
- State University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil
- Corresponding author: M.A. Costa Lima
- E-mail: [email protected]
- Genet. Mol. Res. 2 (4): 360-365 (2003)
- Received July 7, 2003
- Accepted September 30, 2003
- Published December 5, 2003
ABSTRACT. Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism of SCA1 and SCA2 loci in a sample of 200 pairs of chromosomes in a population in Rio de Janeiro and found 23 different alleles at the SCA1 locus, varying from 10 to 39 CAG repeats (mean 27.7 ± 3.3, mode 28) and 10 different alleles ranging from 19 to 29 CAG (mean 22.1 ± 1.0, mode 22) at the SCA2 locus. The level of heterozygosis was 53% (SCA1) and 8% (SCA2).
Key words: Spinocerebellar ataxia, Dynamic mutation, SCA1, SCA2, Genetic polymorphism
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