Article ID Journal Published Year Pages File Type
2828379 Blood Cells, Molecules, and Diseases 2006 4 Pages PDF
Abstract

The assay that combines rapid-cycle PCR with allele-specific fluorescent probe melting profiles performed on the Roche Diagnostics LightCycler is commonly employed for genotyping the HFE gene.We report three illustrative cases of the pros and cons of this method. In two cases, atypical melting curves allows the identification of new DNA substitutions in the HFE gene, whereas, in the third case, a typical melting curve of c.845G>A mutation (C282Y) homozygosity overlooks a nucleotide change and promotes misdiagnosis of HH.

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Life Sciences Biochemistry, Genetics and Molecular Biology Molecular Biology
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