Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 646-648, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-308001
ABSTRACT
<p><b>OBJECTIVE</b>To study the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in spinocerebellar ataxia (SCA) patients in China.</p><p><b>METHODS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was detected by PCR, digested with EcoN I, separated on 8% polyacrylamide gel in 68 probands of autosomal dominant SCA families and 119 sporadic SCA patients, who had been excluded CAG/CAA repeat expansion at the SCA1, 2, 3, 6, 7, 17 and dentatorubral-pallidolluysian atrophy (DRPLA) loci. The results were confirmed in four patients by direct sequencing.</p><p><b>RESULTS</b>The single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene was not identified in authors' cohort.</p><p><b>CONCLUSION</b>The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Reação em Cadeia da Polimerase
/
Estudos de Coortes
/
Espectrina
/
Ataxias Espinocerebelares
/
Fatores de Troca do Nucleotídeo Guanina
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Genética
/
Mutação
Tipo de estudo:
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Artigo
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