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.
Artigo
em Chinês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Sequência de Bases
/
China
/
Reação em Cadeia da Polimerase
/
Piebaldismo
/
Análise de Sequência de DNA
/
Proteínas Proto-Oncogênicas c-kit
/
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
/
Genética
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
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