PROCESS FOR ESTABLISHING DIRECT DIAGNOSTIC EVIDENCE OF PATHOGENIC, GENETICALLY-CONDITIONED POINT MUTATIONS

摘要

The invention relates to a rapid process for medical and diagnostic, qualitative and quantitative protein analysis of the exchange of individual amino acids with pathogenic or non-pathogenic effects on the organism. The medical and diagnostic analysis is achieved by combination of enzymatic or chemical separation of the isolated peptide, chromatographic separation of the fragments and analysis by mass spectrometry, and of direct liquid chromatography-mass spectrometry (LC/MS) and indirect matrix-assisted laser desorption ionisation mass spectrometry (MALDI-MS), and analysis by capillary electrophoresis. By comparing the protein samples of healthy people with the samples of sick people, said process can be used to determine novel, presently unknown mutations, and to quantify the expression and incorporation of a wild type to form a mutant.