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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

Huntington disease: DNA analysis in brazilian population

2000; Thieme Medical Publishers (Germany); Volume: 58; Issue: 4 Linguagem: Inglês

10.1590/s0004-282x2000000600001

ISSN

1678-4227

Autores

Salmo Raskin, Nasser Allan, Hélio A.G. Teive, Francisco Cardoso, Mônica Santoro Haddad, GILBERTO LEVI, Raquel Boy, JUAN LERENA, Vanessa Santos Sotomaior, M. Janzen-Dück, Laura Bannach Jardim, FLÁVIO R. FELLANDER, LUIZ AUGUSTO FRANCO ANDRADE,

Tópico(s)

DNA Repair Mechanisms

Resumo

Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.

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