A novel KIT gene mutation from a family with piebaldism in the southern part of China / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 668-670, 2005.
Artículo
en Chino
| WPRIM
| ID: wpr-279973
ABSTRACT
<p><b>OBJECTIVE</b>To detect the gene mutation of a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.</p><p><b>RESULTS</b>G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Secuencia de Bases
/
China
/
Reacción en Cadena de la Polimerasa
/
Piebaldismo
/
Análisis de Secuencia de ADN
/
Proteínas Proto-Oncogénicas c-kit
/
Predisposición Genética a la Enfermedad
/
Mutación Missense
/
Genética
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS