Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1
Journal of Korean Medical Science
;
: 542-544, 2000.
Artigo
em Inglês
| WPRIM
| ID: wpr-150737
ABSTRACT
Neurofibromatos is type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. The NF-1 gene has been cloned and mapped to human chromosome 17q11.2. The NF-1 gene has an open reading frame that predicts a protein consisting of 2,818 amino acids, known as neurofibromin. Here, we report two kinds of novel frame shift mutations of the NF1 gene from 2 out of 56 unrelated Korean NF1 patients. These mutations were detected using polymerase chain reaction and single strand conformational polymorphism analysis. Sequencing analysis revealed four base pair insertion at codon 1270 of exon 22, and a base pair deletion at codon 1398 of exon 24. These mutations resulted in premature termination of the mutant alleles and may encode truncated forms of neurofibromin.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Sequência de Bases
/
Mutação da Fase de Leitura
/
Neurofibromatose 1
/
Polimorfismo Conformacional de Fita Simples
/
Coreia (Geográfico)
/
Pessoa de Meia-Idade
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2000
Tipo de documento:
Artigo
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