[Analysis of gene mutations in two patients with tuberous sclerosis complex].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 29(2): 205-8, 2007 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-17536269
OBJECTIVE: To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC). METHODS: 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. RESULT: 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. CONCLUSION: These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.
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Base de dados:
MEDLINE
Assunto principal:
Esclerose Tuberosa
/
Proteínas Supressoras de Tumor
Limite:
Humans
Idioma:
Zh
Revista:
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
China