Abstract

Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

Author(s): Stenio F.P. Duarte, Raquel S. Gestinari, M�?¡rio Campos-Jr, M�?¡rcia M.G. Pimentel, Marcelo A. Costa Lima

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).

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