Gene expression Single nucleotide polymorphism SNPs

Biomolecular MS and in particular MALDI-TOF-MS (see Sections 2.1.22 and 2.2.1) permit the routine analysis of oligonucleotides up to 70-mers, intact nucleic acids, and the direct detection of DNA products with no primer labels with an increase in analysis speed and mass accuracy especially in contrast to traditional DNA separation techniques such as slab gels or capillary electrophoresis. Applications focus on the characterization of single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs). Precise and accurate gene expression measurements show relative and absolute numbers of target molecules determined independently of the number of PCR cycles. DNA methylation can be studied quantitatively. 

Due to their functional involvement in specific molecular pathways, miRNAs have become interesting targets for therapeutic intervention. Examples of disease-related mechanisms affected by miRNAs include single-nucleotide polymorphisms (SNPs) in 3 UTR sequences (23, 24) or in miRNA genes (25, 26) that may affect normal protein expression and has been identified in association with heart failure (27) and cancer (25, 28). Chromosomal deletions and epigenetic changes involving miRNA also cause abnormal protein expression that is associated with malfunctions... 

---