title: Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography.
abstract: Currently, a major focus of human genetics is the utilization of single-nucleotide polymorphisms for clinical diagnostics, whole-genome linkage disequilibrium screens to identify common disease genes such as Alzheimer disease, determination of the recent evolutionary history of a species, and the process of speciation. We have examined single-nucleotide extension coupled with high-performance liquid chromatography as a method to simultaneously genotype two SNPs occurring in the coding region of the HFE gene that produce clinical effects. This assay allows concurrent genotyping of the C282Y and H63D mutations in 11 min and is 100% concordant with current testing methods for both of these mutations.
authors.affiliation: Transgenomic Inc., Gaithersburg, Maryland 20878, USA. jdevaney@transgenomic.com
authors.forename: J M
authors.initials: JM
authors.lastname: Devaney
authors.forename: E L
authors.initials: EL
authors.lastname: Pettit
authors.forename: S G
authors.initials: SG
authors.lastname: Kaler
authors.forename: P M
authors.initials: PM
authors.lastname: Vallone
authors.forename: J M
authors.initials: JM
authors.lastname: Butler
authors.forename: M A
authors.initials: MA
authors.lastname: Marino
mesh_terms: D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D017931:DNA Primers; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins