Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 367-369, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-239468
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.</p><p><b>METHODS</b>Clinical data and blood samples of the family were collected. Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing. The coding sequences of the ADAR1 were also screened in 50 normal controls.</p><p><b>RESULTS</b>A frameshift mutation (c.2252insG) of the ADAR1 gene was identified in all of the 3 patients. The same mutation was not found in the 3 unaffected members and 50 normal cases.</p><p><b>CONCLUSION</b>The frameshift mutation of ADAR1 gene (c.2252insG) is probably responsible for the disease in this family.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Trastornos de la Pigmentación
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Adenosina Desaminasa
/
China
/
Exones
/
Mutación del Sistema de Lectura
/
Proteínas de Unión al ARN
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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