Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

Autor: Stenio F P, Duarte, Raquel S, Gestinari, Mário, Campos Junior, Márcia M G, Pimentel, Marcelo A Costa, Lima
Rok vydání: 2004
Předmět:
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