Autor: |
Stenio F P, Duarte, Raquel S, Gestinari, Mário, Campos Junior, Márcia M G, Pimentel, Marcelo A Costa, Lima |
Rok vydání: |
2004 |
Předmět: |
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Zdroj: |
Genetics and molecular research : GMR. 2(4) |
ISSN: |
1676-5680 |
Popis: |
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). |
Databáze: |
OpenAIRE |
Externí odkaz: |
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