| Registro completo |
| Provedor de dados: |
BJMBR
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| País: |
Brazil
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| Título: |
Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia
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| Autores: |
Ramalho,V.D.
Oliveira Júnior,E.B.
Tani,S.M.
Roxo Júnior,P.
Vilela,M.M.S.
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| Data: |
2010-09-01
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| Ano: |
2010
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| Palavras-chave: |
X-linked agammaglobulinemia
Bruton tyrosine kinase
Genome analysis
Brazilian
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| Resumo: |
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000900015
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| Editor: |
Associação Brasileira de Divulgação Científica
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| Relação: |
10.1590/S0100-879X2010007500079
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| Formato: |
text/html
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| Fonte: |
Brazilian Journal of Medical and Biological Research v.43 n.9 2010
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| Direitos: |
info:eu-repo/semantics/openAccess
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