Molecular caracterization of factor I deficency in two brazilian sisters (2001)
- Authors:
- Autor USP: ISAAC, LOURDES - ICB
- Unidade: ICB
- Assunto: IMUNOLOGIA
- Language: Inglês
- Abstract: 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
- Imprenta:
- Publisher: Comissão de Cultura e Extensão Universitária do ICb/USP
- Publisher place: São Paulo
- Date published: 2001
- Source:
- Título do periódico: Resumos
- Conference titles: Congresso do Instituto de Ciências Biomédicas
-
ABNT
BARACHO, G V et al. Molecular caracterization of factor I deficency in two brazilian sisters. 2001, Anais.. São Paulo: Comissão de Cultura e Extensão Universitária do ICb/USP, 2001. . Acesso em: 23 abr. 2024. -
APA
Baracho, G. V., Nudelman, V., Baracho, G. V., & Isaac, L. (2001). Molecular caracterization of factor I deficency in two brazilian sisters. In Resumos. São Paulo: Comissão de Cultura e Extensão Universitária do ICb/USP. -
NLM
Baracho GV, Nudelman V, Baracho GV, Isaac L. Molecular caracterization of factor I deficency in two brazilian sisters. Resumos. 2001 ;[citado 2024 abr. 23 ] -
Vancouver
Baracho GV, Nudelman V, Baracho GV, Isaac L. Molecular caracterization of factor I deficency in two brazilian sisters. Resumos. 2001 ;[citado 2024 abr. 23 ] - Ultrastructural aspects of alpha - 2 - macroglobulin activited mouse macrophages
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