Highly efficient semi-quantitative genotyping ofsingle nucleotide polymorphisms in mitochondrialDNA mixtures by liquid chromatographyelectrospray ionization time-of-flightmass spectrometry

摘要

The advantages of ion-pair reversed-phase high-performance liquid chromatography hyphenated to electrospray ionization quadrupole time-of-flight mass spectrometry for the semiquantitative genotyping of single nucleotide polymorphisms were evaluated. Artificially prepared and naturally occurring mitochondrial DNA mixtures showing different levels of heteroplasmy at nucleotide position 16519 served as reference samples The observed assay performance regarding accuracy, reproducibility, and sensitivity suggests that the described technique represents one of the most powerful assays available today for the determination of allelic contents .