Simplified method for screening populations at risk for transthyretin Met30-associated familial amyloidotic polyneuropathy.


This simple, reliable method for detecting the transthyretin-methionine30 [TTR(Met30)] mutation, found in patients with familial amyloidotic polyneuropathy (FAP), is based on production of an extra peptide fragment when the mutant TTR is treated with cyanogen bromide (CNBr). After electrophoresis of whole serum and excision of the TTR (prealbumin) band, the… (More)