What kind of mutation is C282Y?

The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis. Mice carrying each of the two mutations were bred and analyzed.

What is C282Y heterozygote?

Heterozygous: Having one copy of the abnormal HFE gene, for example C282Y or H63D – also known as a ‘carrier’. Homozygous: Two copies of the same gene abnormality, for example C282Y and C282Y.

How does haemochromatosis affect the body?

Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

Is C282Y an allele?

The C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution.

What is heterozygous haemochromatosis?

Homozygous and heterozygous:This refers to how many copies of a mutation or allele a person has. Someone who is heterozygous has one copy, someone who is homozygous has two. Most cases of haemochromatosis are due to people being homozygous for the C282Y allele.

Is C282Y recessive?

Hereditary hemochromatosis is an autosomal recessive disorder associated with the mutation of the HFE gene. C282Y and H63D mutations in this gene have been described.

Who are carriers of the C282Y gene mutation?

Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers.

Is the C282Y mutation in the HFE gene common?

This article has been cited byother articles in PMC. Hereditary haemochromatosis is a common autosomal recessive disorder of iron metabolism. Most patients are homozygous for a C282Y mutation in the HFE gene. This mutation is frequent in northern Europe, where one in five to ten people are carriers.

Is the C282Y mutation identical to hereditary hemochromatosis?

The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis.

What are the mutations in the murine hemochromatosis gene?

Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the …