Publication details

Využití systému SNaPshot pro identifikaci vybraných jednonukleotidových polymorfizmů v genu kódujícím lektin vázající manózu (MBL)

Title in English Using the SNaPshot system for identifying selected single nucleotide polymorphisms in a gene encoding mannose-binding lectin (MBL)
Authors

MRÁZKOVÁ Jana MOHLEROVÁ Nora LOCHMAN Jan IZAKOVIČOVÁ HOLLÁ Lydie BOŘILOVÁ LINHARTOVÁ Petra

Year of publication 2018
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description The SNaPshot system, which includes several methodologies (PCR, single-base extension reaction - SBE, capillary electrophoresis), is often used for various applications, such as analysis of single-nucleotide polymorphisms (SNP), methylation analysis or fingerprinting. One SNaPshot assay allows to identify up to 55 SNPs across the entire genome. Human mannose-binding lectin (MBL) is one of the mediators of complement activation via the lectin pathway, and therefore it is a component of innate immunity. The combination of alleles of the mbl2 gene determines stability, oligomeric state, ability to bind sugar ligands, interaction with MASP2 serine protease and concentration in circulation of the protein, and these manifestations probably affect susceptibility to and progression of various diseases. The aim of our study is to design and optimize the SNaPshot assay technique for the determination of six SNPs in the mbl2 gene. These are three SNPs in exon 1 at positions 52, 54 and 57 (alleles D, B and C), two SNPs in the promoter 1 at positions 550 (H / L variants) and 221 (X / Y variants) and one SNP at +4 position in the 5 'untranslated region (P / Q variants). The result of this study will be the introduction of the original methodology, which will be compared with other methods (sequencing analysis, PCR with subsequent restriction analysis). The correlation of MBL in serum of healthy subjects will be evaluated, depending on their mbl2 gene profile. The SNaPshot technique will further be used to genotypise patients with selected oral cavity diseases (recurrent aphthous stomatitis, periodontitis, dental caries, etc.) and healthy controls to deeper understanding of the role of MBL in the pathogenesis of these diseases.
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