A novel KIT gene mutation results in piebaldism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 545-547, 2005.
Artículo
en Chino
| WPRIM
| ID: wpr-279991
ABSTRACT
<p><b>OBJECTIVE</b>To detect gene mutation in proband and his mother from a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.</p><p><b>RESULTS</b>G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Secuencia de Bases
/
Reacción en Cadena de la Polimerasa
/
Piebaldismo
/
Proteínas Proto-Oncogénicas c-kit
/
Genética
/
Mutación
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS