Simple Multiplex PCR for the Simultaneous Detection of the C282Y and H63D Hemochromatosis (HFE) Gene Mutations

Solid-phase amplification for detection of C282y and H63D hemochromatosis (HFE) gene mutations.

BACKGROUND There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube ELISA-like PCR assay and evaluate it by detecting the common C282Y and H63D mutations found in the hemochromatosis gene (HFE) by use of clinical samples. METHODS The method, termed solid-phase amplification (SPA), involves dual liquid...

Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.

Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clini...

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

CONTEXT Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening. OBJECTIVE To estimate the prevalence of the HFE mutations C282Y and H63D in the US population. DESIGN Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third Nation...

Simultaneous Dual-Color Detection of the C282Y, H63D, and S65C Mutations in the Hemochromatosis Gene HFE by a LightCycler PCR Assay

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.

The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective...