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

Yasuhiro Naito, Keiichiro Ishikawa, Yoshinori Koga, Toshihiro Tsuneyoshi, Hideya Terunuma, Ryuichi Arakawa

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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.

Original languageEnglish
Pages (from-to)737-742
Number of pages6
JournalJournal of the American Society for Mass Spectrometry
Issue number7
Publication statusPublished - 1997 Jul 1


ASJC Scopus subject areas

  • Structural Biology
  • Spectroscopy

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