Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
Journal of Korean Medical Science
;
: 77-83, 2009.
Artigo
em Inglês
| WPRIM
| ID: wpr-112921
ABSTRACT
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing method and multiple ligation-dependent probe amplification (MLPA) analysis and detected germline mutations in the VHL in 15/15 (100%) of VHL patients fulfilling the clinical criteria. Of the 15 distinct mutations detected, large deletions were detected in 5/15 (33.3%) patients, including 4/15 (26.7%) partial deletions and 1/15 (6.6%) deletion of the entire VHL gene by MLPA and the remainder were point mutations detected by sequencing method, of which five mutations were novel. Using MLPA analysis, we detected large deletions including both partial deletions and complete gene deletion, which has not been reported in Korean VHL patients. In conclusion, sequential application of sequencing method and MLPA analysis might make possible to identify germline mutations in most patients with VHL.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Análise Mutacional de DNA
/
Análise de Sequência
/
Deleção de Genes
/
Mutação em Linhagem Germinativa
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Técnicas de Amplificação de Ácido Nucleico
/
Povo Asiático
/
Doença de von Hippel-Lindau
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2009
Tipo de documento:
Artigo
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