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Molecular caracterization of factor I deficency in two brazilian sisters

G V Baracho V Nudelman; G V Baracho; 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 caracterization of factor I deficency in two brazilian sisters
  • Autor: G V Baracho
  • V Nudelman; G V Baracho; 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: Factor I (fi) is a regulatory protein of the complement system encoded by a 63 kb gene on cromossome 4. Some molecular defects in the fi gene have been characterized as the cause of this deficiency. These include single nucleotide substitutions especially in the serine-protease domain. We have studied two Brazilian fi-deficient sisters of consanguieneous parents that present half the normal serum fi concentrations. Southern blotting analysis of the poroband's fi gene after digestion with either Eco RI or Pst I revealed no great rearrangements or deletion. We then analyzed the cDNA obtained from the proband's fibroblasts by RT-PCR. All amplified products had the same size as those of normal fibroblast c DNA. However in semi-quantitative RT-PCR assays we obeserved significantly less amounts of products for the deficients'fi cDNA. This could indicate the presence of unstable fi mRNA. Sequencing of subcloned proband cDNA revealed a two base pair insertion (AT) between positions 1204 and 1205 in the eleventh exon which was confirmed on the probands' genomic DNA. The mutation was also found in half of the mother's clones. This mutation creates a stop codon twelve base pairs downstream of the insertion site. This explains the absence of fi protein and may be related the instability of its mRNA. In conclusion we have identified a new mutation as the cause of fi deficiency
  • Editor: São Paulo Comissão de Cultura e Extensão Universitária do ICb/USP
  • Data de criação/publicação: 2001
  • Formato: 1 v. pôster 105.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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