High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates.

@article{Medintz2001HighperformanceMS,
  title={High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates.},
  author={Igor L. Medintz and William W Wong and Lucia Berti and Lawrence R Shiow and Jonathan Tom and James R. Scherer and George F. Sensabaugh and Richard A Mathies},
  journal={Genome research},
  year={2001},
  volume={11 3},
  pages={413-21}
}
An assay is described for high-throughput single nucleotide polymorphism (SNP) genotyping on a microfabricated capillary array electrophoresis (CAE) microchip. The assay targets the three common variants at the HFE locus associated with the genetic disease hereditary hemochromatosis (HHC). The assay employs allele-specific PCR (ASPCR) for the C282Y (845g->a), H63D (187c->g), and S65C (193a->t) variants using fluorescently-labeled energy-transfer (ET) allele-specific primers. Using a 96-channel… CONTINUE READING
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