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HDA Inside HFE Genotyping

 
Research Use Only

Download: Scientific Poster for AMP 2007
Description:

Hereditary Hemochromatosis (HH), characterized by increased iron absorption and deposition, is one of the most common genetic diseases in people of European ancestry.

Two mutations on the HFE gene were discovered to be primarily responsible for HH. The first mutation results in a change of a cysteine at position 282 to a tyrosine (C282Y); the second results in a change of a histidine at position 63 to an aspartate (H63D).

Homozygosity for the C282Y mutation has been found to be the most common cause of HH, with a clinical penetrance of about 80%. The H63D mutation is more prevalent than the C282Y mutation. However, the clinical penetrance of either H63D homozygosity or C282Y/H63D compound heterozygosity is relatively low.

The HDA-Inside HFE Genotyping is performed using Helicase-Dependent Amplification (HDA) in a real-time PCR instrument in the presence of a fluorescently labeled probe. Melt curve analysis is performed after the amplification reaction to determine the genotype (Figure 1).
 



Figure 1. Melt-curve analysis of the HFE genotyping kit. Mutant alleles (green) can be easily distinguished from the wild-types (red), while heterozygosities (blue) have two corresponding peaks.

 

 
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