Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method.

Abstract excerpt

Comparative analysis of the hemochromatosis-associated mutations C282Y, H63D and S65C in the HFE gene in 51 patients using three different methods is reported. One PCR-RFLP method was based on general primers, whereas another employed mutation-specific mismatched primers. The third method was a new PCR-based reverse hybridisation line probe assay (LiPA), comprising DNA amplification by general primers followed by...

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