Huntington disease: DNA analysis in brazilian population

• Autor(a) principal: RASKIN,SALMO
• Data de Publicação: 2000
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2000000600001
• topic: Huntington disease; CAG repeats; Brazil; DNA; PCR

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.