Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 61-63, 2016.
Article
en Zh
| WPRIM
| ID: wpr-247735
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD).</p><p><b>METHODS</b>Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family.</p><p><b>RESULTS</b>A heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family.</p><p><b>CONCLUSION</b>The c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Análisis Mutacional de ADN
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Datos de Secuencia Molecular
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Secuencia de Bases
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China
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Mutación del Sistema de Lectura
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Pueblo Asiatico
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Distonía
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Genética
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Proteínas de la Membrana
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Proteínas del Tejido Nervioso
Límite:
Adult
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Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Article