Mass spectrometric gene diagnosis of one-base substitution from polymerase chain reaction amplified human DNA

Toshihiro Tsuneyoshi, Keiichiro Ishikawa, Yoshinori Koga, Yasuhiro Naito, Shozo Baba, Hideya Terunuma, Ryuichi Arakawa, Darwin J. Prockop

研究成果: Article査読

28 被引用数 (Scopus)

抄録

One-base substitution has been detected on the polymerase chain reaction (PCR) products amplified from human mutated DNA for the first time by using mass spectrometry. PCR fragments of 52 base pairs were produced on a collagen gene of an osteogenesis imperfecta patient's heterozygous DNAs. The products were digested with EcoRI restriction enzyme to liberate 3'-end adducts and purified by phenol + chloroform extraction, ammonium acetate addition and ethanol precipitation to remove sodium ions from the phosphoric acid backbone of the DNAs. Purified products were examined using an electrospray ionization mass spectrometer. Mass spectra showed four groups of fragment peaks with the expected molecular masses, which originate from the sense and antisense strands of the heterozygous DNAs.

本文言語English
ページ(範囲)719-722
ページ数4
ジャーナルRapid Communications in Mass Spectrometry
11
7
DOI
出版ステータスPublished - 1997
外部発表はい

ASJC Scopus subject areas

  • 分析化学
  • 分光学
  • 有機化学

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