Article
High-performance multiplex SNP analysis of three hemochromatosis-related mutations with capillary array electrophoresis microplates.
Genome research - 1 Mar 2001
Medintz I, Wong W W, Berti L, Shiow L, Tom J, Scherer J, Sensabaugh G, Mathies R A
Abstract excerpt
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...
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