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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

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Journal of the American Society for Mass Spectrometry

Abstract

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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Authors and Affiliations

  1. Department of Biochemistry, Hamamatsu University School of Medicine, Handacho, Hamamatsu, Shizuoka, Japan

    Yasuhiro Naito

  2. Laser-induced Reaction Laboratory, Department of Advanced Chemical Technology, National Institute of Materials and Chemical Research, Higashi, Tsukuba, Ibaraki, Japan

    Keiichiro Ishikawa & Yoshinori Koga

  3. Department of Materials Science, Shizuoka Institute of Science and Technology, 2200 Toyosawa, Fukuroi-City, 437, Shizuoka, Japan

    Toshihiro Tsuneyoshi

  4. Suruga Nishi Hospital, Nakane Shinden, Yaizu, Shizuoka, Japan

    Hideya Terunuma

  5. Department of Applied Chemistry, Faculty of Engineering, Osaka University, Machikaneyama-cho, Toyonaka, Osaka, Japan

    Ryuichi Arakawa

Authors
  1. Yasuhiro Naito
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  2. Keiichiro Ishikawa
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  3. Yoshinori Koga
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  4. Toshihiro Tsuneyoshi
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  5. Hideya Terunuma
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  6. Ryuichi Arakawa
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Naito, Y., Ishikawa, K., Koga, Y. et al. 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. J Am Soc Mass Spectrom 8, 737–742 (1997). https://doi.org/10.1016/S1044-0305(97)00083-4

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  • DOI: https://doi.org/10.1016/S1044-0305(97)00083-4

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