Hemochromatosis

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  • Citations (4)

General Description

Research indicates that genetic variations are key for understanding the genetic basis of complex traits and diseases. Variants can influence phenotypes, the susceptibility of an individual to disease, drug response and human genome evolution. Many SNPs have been associated with common disorders such as diabetes, obesity, and cardiovascular diseases. Further research into identifying the risk factors and understanding the biology of risk variants would enable a more complete view of these conditions and lead to improved disease treatment and prevention.

Focus

Research suggests that in individuals homozygous for the C282Y mutation, iron is over absorbed from the diet and hemochromatosis can result. Studies have also indicated that carriers of H63D and S65C mutations have smaller increases in iron absorption and may be at risk for milder forms of hemochromatosis, whereas individuals that are heterozygotes for both C282Y and H63D or S65C may have an increased risk of developing hemochromatosis.

Target Disease/Application

Hemochromatosis

Assay ID Clinical Name Gene Symbol Gene Name dbSNP ID  
C___1085595_10 Hematochromatosis C282Y HFE Hemochromatosis rs1800562
C___1085600_10 Hematochromatosis H63D HFE Hemochromatosis rs1799945
C___1085599_20 Hematochromatosis S65C HFE Hemochromatosis rs1800730

Specifications

General Specifications

# of assays: 3
Technology: TaqMan® Assays - Pre-formulated assay (20x or 60x mix)
Scale: Available in multiple scales
Intended Use: Research Use Only

Contents and Storage

-20° C

 

Citations & References (2)

  • HFE gene and hereditary hemochromatosis: a HuGE review.

Authors
Hanson EH, Imperatore G, Burke W.
Journal
Am J Epidemiol. (2001) 154:193-206.
  • Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

Authors
Cukjati M, Vaupotic T, Rupreht R, Curin-Serbec V.
Journal
BMC Med Genet. (2007) 8:69.