Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease.
Asian Pac J Allergy Immunol
;
2007 Dec; 25(4): 243-7
Artigo
em Inglês
| IMSEAR
| ID: sea-37037
ABSTRACT
X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder characterized by defective intracellular killing of microorganisms due to the neutrophils' inability to generate superoxide ions. Although it is always caused by mutations in the CYBB gene, clinical and molecular characteristics vary in different ethnic backgrounds. Two unrelated Thai boys presented with severe persistent pulmonary infections at the age of two months. Their abnormal dihydrorhodamine (DHR) flow cytometry assays supported the diagnosis of X-CGD. Mutation analysis was performed by polymerase chain reaction (PCR) amplification and sequencing of the entire coding regions of CYBB. Mutations identified were confirmed by restriction enzyme analyses. PCR-sequencing of the entire coding regions of CYBB identified nonsense mutations, 271C>T (R91X) in exon 4 and 456T>A (Y152X) in exon 5, in probands of each family. Both of the patients' mothers were found to be carriers. This observation supports that CYBB is the gene responsible for X-CGD across different populations and nonsense mutations are associated with severe phenotypes.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Tailândia
/
Feminino
/
Humanos
/
Masculino
/
Análise Mutacional de DNA
/
Glicoproteínas de Membrana
/
Reação em Cadeia da Polimerase
/
Éxons
/
Códon sem Sentido
/
NADPH Oxidases
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Asian Pac J Allergy Immunol
Ano de publicação:
2007
Tipo de documento:
Artigo
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