Skipping of exon 30 in C5 gene results in complete human C5 deficiency and demonstrates the importance of C5d and CUB domains for stability

The deficiency of complement C5 is rare and frequently associated with severe and recurrent infections, especially caused by Neisseria spp. We observed the absence of component C5 in the serum of 3 siblings from a Brazilian family with history of consanguinity. The patients had suffered from recurrent episodes of meningitis and other less severe infections. Sera from these patients were unable to mediate hemolytic activity either by the classical or alternative pathways and presented extremely low levels of C5 protein (13, 0.9 and 1.0 mu g/ml-normal range: 45-190 mu g/ml). Hemolytic activity could be restored by the addition of purified C5 to deficient serum. Sequencing of sibling C5 cDNA revealed a homozygous 153 bp deletion that corresponds precisely to exon 30. The parents carried the same deletion but only in one allele. Sequencing of the corresponding region in the genomic DNA revealed a C to C substitution within intron 30 and, most significantly, the substitution of GAG(4028) for GAA(4028) at the 3` end of exon 30 which is most likely responsible for skipping of exon 30. The resulting in-frame deletion in the C5 mRNA codes for a mutant C5 protein lacking residues 1289-1339. These residues map to the CUB and C5d domains of the C5 alpha chain. This deletion is expected to produce a non-functional and unstable C5 protein which is more susceptible to degradation. (C) 2009 Published by Elsevier Ltd.

Spectrofluorimetric Determination of Second Critical Micellar Concentration of SDS and SDS/Brij 30 Systems

Potentially useful stead-state fluorimetric technique was used to determine the critical micellar concentrations (CMC(1) and CMC(2)) for two micellar media, one formed by SDS and the other by SDS/Brij 30. A comparative study based on conductimetric and surfacial tension measurements suggests that the CMC(1) estimated by the fluorimetric method is lower than the value estimated by these other techniques. Equivalent values were observed for SDS micelles without Brij 30 neutral co-surfactant. The use of acridine orange as fluorescent probe permitted to determine both CMC(1) and CMC(2). Based on it an explanation on aspects of micelle formation mechanism is presented, particularly based on a spherical and a rod like structures.

Lokal utveckling och företagssamverkan i träbranschen : Dokumentation och preliminär analys av ett 30-tal fall

Networks and cooperatives have become very common in the woodworking industry during the1990’s. As part of a research project on small enterprise development in the woodworking industry within the Target 6 area (in Sweden) of the European Community, this study follows the development of a dozen cooperative projects during the period 1997-2000. In order to broaden the knowledge base of the study, in 1998 we carried out a survey of cooperative ventures in the woodworking industry in the rest of the country, and collected information about their history, present situation and future strategy. Together with our own material we achieved a body of material consisting of some 30 cases which were subjected to exploratory analysis. We identified the following categories of projects and cooperative ventures; ”Local development projects”, ”Development networks”, ”Producer networks” and ”Development supporting networks”. Most of the producer networks were horizontally integrated but some of them were vertically integrated, along the processing chain from the forest to the customer. Nearly all the local development projects and the networks had been initiated within the last four years. It is, therefore, too early to make any conclusions about their success. Our main finding, so far, is that local development and the establishment of networks requires ”driving forces” in the form of committed individuals, time, money and project organisation. Most of the projects and networks were supported by public funds.