Analysis of gene mutations in two patients with tuberous sclerosis complex / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
; (6): 205-208, 2007.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-230003
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.</p><p><b>RESULT</b>Two TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.</p><p><b>CONCLUSION</b>These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esclerose Tuberosa
/
Proteínas Supressoras de Tumor
/
Estudos de Associação Genética
/
Genética
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2007
Tipo de documento:
Artigo