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Genet. mol. res. (Online) ; 2(4): 360-365, Dec. 2003.
Artículo en Inglés | LILACS | ID: lil-417594

RESUMEN

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)


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Ataxias Espinocerebelosas/genética , Frecuencia de los Genes , Brasil , Análisis Mutacional de ADN , Predisposición Genética a la Enfermedad , Reacción en Cadena de la Polimerasa , Proteínas Nucleares/genética , Proteínas del Tejido Nervioso/genética , Proteínas/genética
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