Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

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...

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Published inGenetics and molecular research Vol. 2; no. 4; pp. 360 - 365
Main Authors Duarte, Stenio F P, Gestinari, Raquel S, Campos Junior, Mário, Pimentel, Márcia M G, Lima, Marcelo A Costa
Format Journal Article
LanguageEnglish
Published Brazil 30.12.2003
Subjects
Adolescent
Adult
Ataxin-1
Ataxins
Brazil
DNA Mutational Analysis
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Nerve Tissue Proteins - genetics
Nuclear Proteins - genetics
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Proteins - genetics
Spinocerebellar Ataxias - genetics
Brazil
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Summary: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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ISSN:1676-5680
1676-5680