Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy.
A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I. Secondary ion mass spectrometry of the tryptic digest of a carrier's prealbumin could easily detect an abnormal peptide containing the substitution besides the normal peptide. This is a sensitive and reliable method for the diagnosis of FAP.
D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000097:blood / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D013058:Mass Spectrometry; D009422:Nervous System Diseases / Q000097:blood / Q000235:genetics*; D010446:Peptide Fragments; D011228:Prealbumin / Q000032:analysis / Q000235:genetics*; D014357:Trypsin
D010446:Peptide Fragments; D011228:Prealbumin; D014357:Trypsin