Genetic diagnosis by polymerase chain reaction and electrospray ionization mass spectrometry: Detection of five base deletion from blood DNA of a familial adenomatous polyposis patient

A 5-base deleted mutation of adenomatous polyposis coli (APC) gene was detected by using electrospray ionization mass spectrometry of polymerase chain reaction (PCR) products. Genomic DNA was extracted from a familial adenomatous polyposis patient blood, and a 57-base pairs segment of APC gene was amplified by PCR. The PCR products were purified, digested with restriction endonuclease, purified, and determined by electrospray mass spectrometry. (C) 1997 American Society for Mass Spectrometry.