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Molecular bases of human complement component C3 deficiency

G V Baracho E S Reis; G V Baracho; A S Lima; Lourdes Isaac; Congresso do Instituto de Ciências Biomédicas (3. 2001 São Paulo)

Resumos São Paulo: Comissão de Cultura e Extensão Universitária do ICB/USP, 2001

São Paulo Comissão de Cultura e Extensão Universitária do ICB/USP 2001

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  • Título:
    Molecular bases of human complement component C3 deficiency
  • Autor: G V Baracho
  • E S Reis; G V Baracho; A S Lima; Lourdes Isaac; Congresso do Instituto de Ciências Biomédicas (3. 2001 São Paulo)
  • Assuntos: IMUNOLOGIA
  • É parte de: Resumos São Paulo: Comissão de Cultura e Extensão Universitária do ICB/USP, 2001
  • Descrição: Introduction: the third component (C3) of the complement system plays a key role in its activation. C3 deficiency is a rare autosomic recessive inherited disease characterized by severe recurrent infections and immune complex disorders. The molecular basis for this deficiency has been identified in only 6 individuals. In each case, differents causes were responsible for the lack of this protein. Here we identify the mutations responsable for C3 deficiency found, for the first time, in Brazilian family. Methods and results: fibroblasts were stimulated by lipopolysaccharide from E. coli, RNA was purified and the C3 cDNA (5067bp) was obtained by RT-PCR. When we compared the products from the proband's and the control's C3 cDNA no significant size differences were found. However, the proband produced ~ 10 fold less C3 mRNA than normal control. Sequencing studies revealed two polymorphic regions: i) a silent mutation at nucleotide 972 and ii) a mutation at position at 1001 in the cDNA which causes proline to be replaced by leucine. More importantly we also found a stop codon in exon 13 caused by a G to A substitution at position 1716. This mutation was confirmed in the proband's, maternal and paternal genomic DNA. Discussion: these indings indicate that the presence of this stop codon is responsible for the lack of C3 in this proband. We have not yet determinated the conection, if any, between the point mutation and the low yield of C3 mRNA. This study will
    contribute to the knowledge of this deficiency and may aid the developmant of therapies in the future
  • Editor: São Paulo Comissão de Cultura e Extensão Universitária do ICB/USP
  • Data de criação/publicação: 2001
  • Formato: 1 v. pôster 106.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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