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EN
Expression of GA733-1 and GA733-2 genes in gastrointestinal tumours was investigated. Twelve cases of colorectal and stomach cancers were analysed. The Northern blot and RT-PCR methods were used. The second method appeared to be much more sensitive and useful in these investigations. No expression of GA733-1 gene was found in the investigated cases. GA733-2 expression was observed in 83% of colon cancers (five to six analysed cases) and in 33% of stomach cancers (two to six analysed cases). No correlation was found between the expression and clinical properties of tumours. Moreover, in two cases the presence of GA733-2 mRNA was observed in the surrounding morphologically normal tissue. These results indicate that GA733-2 gene can be a good marker of colon but not stomach cancers.
EN
Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.
EN
Human antigen GA733-1, defined as 40 kDa cell glycoprotein, is one of the antigens associated with gastrointestinal carcinomas. Its studies may contribute to the tumor etiology and therapy effects in animal model.
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