I have iron genes!! HFE:C282Y
This is the first gene or disease-specific design I created. It depicts the DNA sequence change that is responsible for the genetic iron overload disorder haemochromatosis. Haemochromatosis is an autosomal recessive disorder that is due to a single nucleotide variant in the HFE gene on chromosome 6.
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The design depicts the exact location of the variant. It is a G to A change at nucleotide position 26,092,913 on chromosome 6 (chr6:26092913G>A). GRCh38/hg38 refers to the version of the reference human genome (we are up to the 38th version). The variant is a G to A change at position 845 of the HFE gene coding sequence (c.845G>A). This changes codon number 282 from TGC to TAC changing the amino acid at this position from a cysteine (C) to a tyrosine (Y), this is referred to as p.C282Y.
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The p.C282Y mutation affects a critical amino acid that results in a faulty HFE protein. The HFE protein normally acts as an iron sensor in the liver that helps to regulate iron absorption from the diet and the recycling of iron in the body. In haemochromatosis it no longer senses iron properly resulting in excessive iron absorption and accumulation in the body. Over time this excess iron builds up and causes damage to many organ systems including the liver, pancreas, heart and joints.
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The design shows 2 Sanger DNA sequencing chromatograms corresponding the the sequence surrounding the site of the p.C282Y variant. The upper sequence shows the sequence that would be found in a normal person. The lower sequence shows the sequence that you would find in a person homozygous for the p.C282Y mutation. Most people with haemochromatosis are homozygous for p.C282Y, meaning they have 2 copies of the faulty gene, one on each of the chromosomes they inherited from their parents.
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You can find out more about haemochromatosis by visiting the Haemochromatosis Australia website here.
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You can purchase this design from Spreadshirt using the links below.
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