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Genes are transcribed to pre-mRNA, further processed to various mRNAs and then translated into proteins that may be post-translationally modified and subsequently function as the ultimate effecting molecules in the cell. Diagnostic options may be addressed as hybridization-based techniques to monitor nucleotide mutations or transcript levels. These techniques are highly suitable for high-throughput analyses based on DNA chip technology. They will enter the diagnostic practice as routine assays, although some obstacles must be addressed. Proteomics-based techniques are less suitable for highthroughput analyses at the moment, but are closer to the functional level. The combination of 2-dimensional polyacrylamide gel electrophoresis and mass spectrometry analyses make a strong couple that may enter as diagnostic applications once more automated.