Diagnostics based on mass spectrometric detection of translated target polypeptides

A process for obtaining sequence information or the identity of a plurality of nucleic acid molecules by determining the identities of polypeptides encoded by the nucleic acid molecules, comprising the steps of:

• a) obtaining nucleic acid molecules;
• b) preparing a plurality of polypeptides from the nucleic acid molecules, wherein the plurality of polypeptides include mass modified polypeptides;
• c) determining molecular masses of the differentially mass modified polypeptides by mass spectrometry;
• and
• d) determining the identities of the polypeptides by comparing the molecular masses of the target polypeptides with the molecular mass of one or more reference polypeptides of known identity, thereby obtaining sequence information or sequence information of the nucleic acid molecules encoding the target polypeptides.

A process for identifying the presence or absence of a mutation in a target nucleic acid sequence by determining the molecular mass of a polypeptide encoded by the nucleic acid sequence, comprising the steps of:

• a) obtaining a nucleic acid molecule comprising a nucleic acid sequence suspected of containing a mutation;
• b) preparing a polypeptide from a portion of the nucleic molecule comprising the nucleic acid sequence suspected of containing the mutation;
• and
• c) determining the molecular mass of the polypeptide by mass spectrometry, whereby the molecular mass of the polypeptide identifies the presence or absence of a mutation in the nucleic acid sequence.