RESUMO
An intracranial aneurysm (IA) is a weak or thin area on a blood vessel in the brain that balloons as it fills with blood. Genetic factors can influence the risk of developing an aneurism. The purpose of this study was to explore the relationship between single nucleotide polymorphisms (SNPs) and IA in Kazakh population. The patients were genotyped for 60 single nucleotide polymorphisms. Genotyping was performed on the QuantStudio 12K Flex (Life Technologies). A linear regression analysis found 13 SNPs' significant association with development and rupture of IA: the rs1800956 polymorphism of the ENG gene, rs1756 46 polymorphism of the JDP2 gene, variant rs1800255 of the COL3A1, rs4667622 of the UBR3, rs2374513 of the c12orf75, rs3742321 polymorphism of the StAR, the rs3782356 polymorphism of MLL2 gene, rs3932338 to 214 kilobases downstream of PRDM9, rs7550260 polymorphism of the ARHGEF, rs1504749 polymorphism of the SOX17, the rs173686 polymorphism of CSPG2 gene, rs6460071 located on LIMK1 gene, and the rs4934 polymorphism of SERPINA3. A total of 13 SNPs were identified as potential genetic markers for the development and risk of rupture of aneurysms in the Kazakh population. Similar results were obtained after adjusting for the confounding factors of arterial hypertension and age.
Assuntos
Aneurisma Intracraniano/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Estudos de Casos e Controles , Colágeno Tipo III/genética , Proteínas de Ligação a DNA/genética , Endoglina/genética , Feminino , Histona-Lisina N-Metiltransferase/genética , Humanos , Cazaquistão , Quinases Lim/genética , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/genética , Proteínas Repressoras/genética , Fatores de Troca de Nucleotídeo Guanina Rho/genética , Fatores de Transcrição SOXF/genética , Serpinas/genética , Ubiquitina-Proteína Ligases/genética , Versicanas/genéticaRESUMO
Plants offer a unique combination of advantages for the production of valuable recombinant proteins in a relatively short time. For instance, a variety of diagnostic tests have been developed that use recombinant antigens expressed in plants. The envelope glycoprotein gp51 encoded by Bovine leukemia virus (BLV) is one of the essential subunits for viral infectivity. It was indicated that the recombinant gp51 (rgp51) of BLV Ñan be used as an synthetic alternative antigen useful in the diagnosis of BLV infection in cattle. Here we evaluate the potential for using a viral vector based on the genome of Tomato bushy stunt virus (TBSV) for the efficient expression of BLV envelope glycoprotein rgp51 in Nicotiana benthamiana plants. The codon-optimized gene encoding rgp51 was synthesized by the de novo DNA synthesis to replace the GFP gene in the TBSV-derived viral vector that was then delivered into 4-5 week old N. benthamiana plants by agroinfiltration. Expression of recombinant his-tagged rgp51 was verified by protein extraction followed by western blot procedures, and by purification using Ni2+-affinity chromatography. The molecular weight of this plant-expressed rgp51 ranged from 43 to 55â¯kDa and it was shown to be glycosylated. Important for potential use in diagnostic tests, purified rgp51 specifically reacted with BLV infected bovine sera while no reaction was observed with the negative serum samples.
