Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 207-210, 2004.
Artículo
en Chino
| WPRIM
| ID: wpr-328917
ABSTRACT
<p><b>OBJECTIVE</b>To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.</p><p><b>METHODS</b>Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.</p><p><b>RESULTS</b>A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.</p><p><b>CONCLUSION</b>A533G and A767G of GDAP1 gene were new mutations firstly reported.</p>
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Reacción en Cadena de la Polimerasa
/
Análisis de Secuencia de ADN
/
Polimorfismo Conformacional Retorcido-Simple
/
Genética
/
Mutación
/
Proteínas del Tejido Nervioso
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Artículo
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