Mass spectrometric analysis of nucleic acid fragments

摘要

Method for analyzing a sample that contains at least one nucleic acid molecule (I) having at least one sequence (II). Method for analyzing a sample that contains at least one nucleic acid molecule (I) having at least one sequence (II) comprises: (1) preparing a comparison molecule (CM), of known concentration and known sequence (IIa), having a defined mass difference compared with a reference sequence (RS); (2) cutting (II) and (IIa) to fragments; (3) determining a mass spectrum (MS) for the mixture of fragments from (II) and (IIa); (4) determining a comparison mass spectrum (CMS) of the fragments of (IIa); (5) determining the concentration of (II) from MS and CMS; and (6) determining previously unknown sequence variants of (II) in comparison with RS, from MS and a reference spectrum of RS. An independent claim is included for a similar method in which, after step (1), (I) and CM are amplified simultaneously, and the amplicons are cut before performing the remainder of the process.