Hemochromatosis Kit (DNA electrophoresis)

Hemochromatosis is one of the most common genetic diseases. It leads to a progressive overload of iron in the body, with symptoms that are nonspecific and vary depending on the individual. If the iron is not eliminated, it can damage organs (liver, pancreas, heart, bones) and can lead to cirrhosis, diabetes, or heart failure.

In the Western world, it is the genetic disease with the largest number of predisposed individuals. In France, in 96% of cases, hemochromatosis is linked to the C28Y mutation of the HFE gene on chromosome 6, which encodes the HFE protein (1 in 9 French individuals is H/h heterozygous).
Here, the 4 DNA tubes correspond to 4 individuals of a (fictional) family. The DNA to be analyzed is presented as the result of amplification of the HFE gene by PCR. This amplification was followed by the action of the Rsa I restriction enzyme.

Electrophoresis will determine if members of this family are carriers of the h allele. Under the action of the Rsa I enzyme, the H allele undergoes one cut, while the h allele undergoes two cuts.

Format: 20 tests, totaling 80 samples to analyze + 10 samples (molecular weight)
Experiment duration: 60 min
Storage duration: 6 months
Storage conditions: -20°C
DNA fragment separation: 2% agarose gel