Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil
Genet. mol. res. (Online)
;
2(4): 360-365, Dec. 2003.
Artículo
en Inglés
| LILACS
| ID: lil-417594
RESUMO
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)
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Ataxias Espinocerebelosas
/
Frecuencia de los Genes
Límite:
Adolescente
/
Adulto
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2003
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
State University of Rio de Janeiro/BR
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