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Gene Diagnosis by Polymerase Chain Reaction and Electrospray Ionization Mass Spectrometry: Detection of Five Base Deletion from Blood DNA of a Familial Adenomatous Polyposis Patient

Y. Naito, K. Ishikawa, Y. Koga, T. Tsuneyoshi, H. Terunuma, and R. Arakawa
[J. Am. Soc. Mass Spectrom., Vol.8, pp.737-742, 1997]


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.


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