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What are the most common genetic mutations found in genealogy testing?

Kelis Pankettman

Well, as a regular user of genealogy testing, I can tell you that there are a few genetic mutations that tend to show up more frequently than others. Of course, these will vary depending on the specific tests being done and the populations being studied, but there are a couple that are fairly well-known.

One of the most common genetic mutations that show up in genealogy testing is something called the BRCA mutation. This is actually a group of mutations that affect the BRCA1 and BRCA2 genes, and it's associated with a higher risk of breast and ovarian cancer. According to some estimates, up to 1 in 40 women of Ashkenazi Jewish descent carry a BRCA mutation.

Another fairly common genetic mutation is something called the MTHFR mutation. This affects the MTHFR gene, which is involved in processing folate in the body. People with this mutation may have a harder time processing folate, which can lead to a variety of health issues, including increased risk of heart disease and stroke. Some estimates suggest that as many as 30-40% of people may carry at least one copy of this mutation.

The HFE mutation is another one that's fairly common, especially among people of European descent. This mutation affects the HFE gene, which regulates how the body absorbs and processes iron. People with this mutation may be at increased risk for conditions like hemochromatosis, which can lead to organ damage over time. Some studies have suggested that up to 10% of people of Northern European descent may carry at least one copy of this mutation.

Of course, there are many other genetic mutations that can be detected through genealogy testing, and the prevalence of these mutations will depend on a variety of factors. But these are a few of the most well-known and commonly-discussed mutations in the genealogy community.