Detection of single-nucleotide mutations including substitutions and deletions by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.

Abstract excerpt

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) was applied to the detection of mutations involving single nucleotides. For detection of a single-nucleotide deletion, a normally 44 bp region of the L1CAM gene was amplified in a 50 microL solution, and measurement was carried out on the DNA sample after phenol extraction and ethanol precipitation. A molecular mass...

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