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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Reacción en Cadena de la Polimerasa
/
Estudios de Cohortes
/
Espectrina
/
Ataxias Espinocerebelosas
/
Factores de Intercambio de Guanina Nucleótido
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
/
Genética
/
Mutación
Tipo de estudio:
Estudio de etiología
/
Estudio de incidencia
/
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2008
Tipo del documento:
Artículo
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