Novel Method for Molecular Detection of the Two Common Hereditary Hemochromatosis Mutations

19 June 2000

journal article
research article
Published by Mary Ann Liebert Inc in Genetic Testing

Vol. 4 (2) , 125-129
https://doi.org/10.1089/10906570050114821

Abstract

We describe a novel molecular screening technique for hereditary hemochromatosis through which HFE genotypes at codon positions 282 and 63 are simultaneously detected. The technique combines multiplex PCR and denaturing high-performance liquid chromatography (DHPLC) and allows automated high-throughput analysis. We used this method to genotype 43 previously characterized anonymous DNA specimens in blinded fashion and found multiplex PCR/DHPLC 100% accurate when compared with PCR/restriction enzyme digestion, yet far more efficient.

Keywords

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