Abstract
Hemochromatosis is a common autosomal recessive genetic disorder of iron metabolism. In the United Kingdom, more than 90% of patients with hereditary hemochromatosis are homozygous for the C282Y mutation of the HFE gene, but other single-nucleotide polymorphisms (SNPs) within the HFE gene, namely H63D and S65C, have also been associated with the hemochromatosis phenotype. Various PCR-based methods can detect these SNPs, including a multiplex PCR for the two common SNPs, C282Y and H63D (1). This method involves PCR-mediated site-directed mutagenesis for C282Y and H63D to create a Bbr PI restriction site in the wild-type PCR products. The presence of polymorphic alleles for both C282Y and H63D abolishes the restriction site so that the mutated allele remains undigested. …
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