762 KB37 KB202120242024Breznik, NikaBreznik, NikaČrepinšek, KlementinaDebeljak, Marušaštevilka:6str. 41-50COBISSID_HOST:210927363ISSN:2670-4463URN:URN:NBN:SI:doc-ON1V3K9QslSlovensko združenje za klinično kemijo in laboratorijsko medicinoLaboratorijska medicinaanaliza različnega izražanja genovdifferential gene expression analysisRNA sequencingsekvenciranje RNASekvenciranje RNA in primer uporabe v diagnostiki| RNA sequencing and example of diagnostic use|RNA sequencing is an advanced molecular technique that allows the transcriptomes to be studied in detail, representing a remarkable advance in transcriptome studies. The first step in RNA sequencing is the isolation of RNA from a biological sample, followed by RNA library preparation, sequencing, and bioinformatics analysis. The main objective is to quantify and compare gene expression between different conditions, providing insights into the biological function of the genes analyzed. Despite its numerous advantages, RNA sequencing also has certain limitations and drawbacks. These include the instability of RNA and its susceptibility to degradation by RNAses, which are difficult to remove and require careful sample preparation. The clinical application of this technology is demonstrated using the example of a patient with B-cell acute lymphoblastic leukaemiaSekvenciranje RNA je napredna molekularna tehnika, ki omogoča preučevanje transkriptov. Prvi korak pri sekvenciranju RNA je izolacija RNA iz biološkega vzorca, ki ji sledijo priprava knjižnice RNA, sekvenciranje in bioinformatska analiza. Glavna cilja sekvenciranja sta kvantifikacija in primerjava izražanja genov med različnimi pogoji, kar nam omogoča vpogled v biološko funkcijo analiziranih genov. Kljub številnim prednostim ima sekvenciranje RNA tudi nekatere omejitve in pomanjkljivosti. Eni izmed glavnih pomanjkljivosti sta nestabilnost RNA in občutljivost na razgradnjo z RNAzami, ki se jih težko znebimo, zato je potrebna skrbna priprava vzorca. Klinična uporaba te tehnologije je prikazana na primeru bolnika z B-celično akutno limfoblastno levkemijoTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of Slovenia