Molecular genetics screening in brazilian patients with X-linked agammaglobulinemia (2006)
- Authors:
- USP affiliated authors: CONDINO NETO, ANTONIO - ICB ; SAMPAIO, MAGDA MARIA SALES CARNEIRO - FM
- Unidades: ICB; FM
- Assunto: IMUNOLOGIA
- Language: Inglês
- Abstract: Introduction and Objectives: X-linked Agammaglobulinemia (XLA) is a prototype defect of early B cell development. Approximately 85% of patients with defects in early B-cell development have XLA, characterized by decreased numbers of mature B cells in their peripheral blood and show a lack of all immunoglobulin isotypes and increased susceptibility to severe bacterial and enteroviral infections. XLA is a disordes caused by mutations in the gene encoding for Bruton's agammaglobulinemia tyrosine kinase (BTK). BTK is expressed in all hematopoietic lineages except for T lymphocytes and plasma cells, and is crucial for B cell signaling. The aim of the present works is to investigate molecular genetic defects of patients with XLA and establish genotype-phenotype correlations. Methods and Results: Twenty and eight patients from 24 unrelated families were analyzed for the presence of BTK mutations.They were twenty and seven males and one female. The diagnosis was based on PAGID and ESID criteria; absence or less than 2% in circulating B cells; a very low levels of serum IgG; and a history recurrent bacterial infections. The patients were diagnosed and treated at the Department of Pediatric School of Medicine USP and UNIFESP. Genomic DNA was isolated from peripheral blood by using a salting out protocol. Each exon was amplified from genomic DNA by polimerase chain reaction (PCR), with specific flanking intron pairs of primer. The PCR product was analyzedfor single strand conformation polymorphism/hetedoduplex analysis (SSCP/HA). Commentary: We detected aberrant electrophoretic mobility in 24 patients. The observed alterations in SSCP/HA gels affected the PH (exons 01 and 2), SH3 (exons 08 and 09) and SH1 (exons15, 16, 17, 18 and 19) domains of BTK. We are currently performing direct sequencing of the regions in order to determine the causative mutations.
- Imprenta:
- Source:
- Título do periódico: Abstracts
- Conference titles: Meeting of the Brazilian Society for Immunology
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ABNT
OLIVEIRA, R R et al. Molecular genetics screening in brazilian patients with X-linked agammaglobulinemia. 2006, Anais.. São Paulo: Instituto de Ciências Biomédicas, Universidade de São Paulo, 2006. . Acesso em: 23 abr. 2024. -
APA
Oliveira, R. R., Jacob, C. A., Condino Neto, A., Costa-Carvalho, B. T., & Carneiro-Sampaio, M. M. S. (2006). Molecular genetics screening in brazilian patients with X-linked agammaglobulinemia. In Abstracts. São Paulo: Instituto de Ciências Biomédicas, Universidade de São Paulo. -
NLM
Oliveira RR, Jacob CA, Condino Neto A, Costa-Carvalho BT, Carneiro-Sampaio MMS. Molecular genetics screening in brazilian patients with X-linked agammaglobulinemia. Abstracts. 2006 ;[citado 2024 abr. 23 ] -
Vancouver
Oliveira RR, Jacob CA, Condino Neto A, Costa-Carvalho BT, Carneiro-Sampaio MMS. Molecular genetics screening in brazilian patients with X-linked agammaglobulinemia. Abstracts. 2006 ;[citado 2024 abr. 23 ] - Molecular screening of x-linked agammaglobulinemia in Brazilian patients
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