attomol« Haemochromatosis Realtime TM 2

REF 1260

2 x 48 reactions

Intended purpose

The assay attomol« Haemochromatosis Realtime TM 2 is used for the supportive diagnosis of haemochromatosis. This test can be used to determine the transition 845G>A (C282Y, rs1800562) and the transversion 187C>G (H63D, rs1799945) separately in the human HFE gene. It is a manual, qualitative, on hydrolysis probes based real-time PCR assay designed for various real-time PCR cyclers. The sample material has to be genomic DNA prepared from EDTA or citrate blood.

Field of application

Haemochromatosis is a disturbance of iron storage during which large amounts of iron are disposited in the parenchyma cells, causing damage to the affected tissue. The disease enhances the risk for liver cell carcinoma, cardiomyopathies, diabetes mellitus, arthritis and hypogonadotropic hypogonadism [Fargion S. et al., 2001, Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma. Blood, 97(12), 3707-3712]. Hereditary haemochromatosis is one of the most frequent autosomal recessive diseases. In the European population the mutation C282Y occurs in 10 % of individuals in its heterozygous form and in 0.4 % in its homozygous form. The mutated allele H63D can be found in about 22 % of Europeans [Hanson E.H. et al., 2011, HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol., 154(3), 193-206]. In 1996, the haemochromatosis gene was identified (HFE gene or HLA-H gene). Scince then, numerous studies have shown that the mutation C282Y in particular is closely related to the disease [Feder J. N. et al., 1998, The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA, 95(4), 1472-1477].

Kit content
  • PCR-H2O
  • Premix HFE C282Y TM 2
  • Premix HFE H63D TM 2
  • Hot Start Taq DNA Polymerase (2 U/Ál)
  • instructions for use

You can find more informations about the TaqManTM-Technology here.

Short informations
DNA from blood
LightCycler« 480
Rotor-Gene« Q
peqSTAR 96Q
ca. 1,5 h
2 x 48 reactions

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