SCREENING METHOD FOR PROTEIN VARIANTS USING MASS SPECTROMETRY

摘要

A screening method using mass spectrometry, particularly where the ionisation technique produces a multiply-charged spectrum, is used to detect variant peptides, polypeptides and proteins that cause or are indicative of disease. The mass spectrometry is focused on a specific multiply-charged species of the polypeptide of interest, enabling a single targeted ionised species and its corresponding variant (if present) to be measured with greater mass precision. An example of use of this method in a screen for sickle cell disease and sickle cell trait by detecting haemoglobin S and other haemoglobin variants using electrospray mass spectrometry is provided.