Arquivos de Neuro-Psiquiatria (Jan 2000)

Huntington disease: DNA analysis in brazilian population

  • RASKIN SALMO,
  • ALLAN NASSER,
  • TEIVE HÉLIO A.G.,
  • CARDOSO FRANCISCO,
  • HADDAD MÔNICA SANTORO,
  • LEVI GILBERTO,
  • BOY RAQUEL,
  • LERENA JR JUAN,
  • SOTOMAIOR VANESSA SANTOS,
  • JANZEN-DÜCK MÔNICA,
  • JARDIM LAURA BANNACH,
  • FELLANDER FLÁVIO R.,
  • ANDRADE LUIZ AUGUSTO FRANCO

Journal volume & issue
Vol. 58, no. 4
pp. 977 – 985

Abstract

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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.

Keywords