Founder Mutations

Founder Mutations

Hello there, fellow bloggers! I assume you’re on my page to learn about founder mutations, and by the time you’re done reading my post, you should be an expert. In this blog I’ll cover a few basics, such as how a founder mutation is spread, how it is traced back to its origin, and I’ll even include an example of a founder mutation. To start off though, let me define founder mutations. Founder mutations are a special class of genetic mutations embedded in strands of DNA (deoxyribonucleic acid) that are strictly identical in all organisms that have the mutation.

Everyone who has a founder mutation has damaged DNA that is embedded in a larger strand of DNA, and, as previously mentioned, is a perfect copy of the founder. The shared section of DNA is called a haplotype. If you share a haplotype, then you share an ancestor, of whom is the founder. Studying haplotypes can calculate the date at which the mutation was formed. You’re probably wondering how this is possible. Well, the haplotypes become shorter over time. The original founder of the mutation will actually have the entire chromosome that includes the mutation. The founder passes on the affected chromosome to its offspring. The founders mate, though, contributes an unaffected, clean chromosome. These two chromosomes exchange different parts of DNA, but after only one recombination, the haplotype will still be embedded in one very long strand of DNA. After each recombination, the strand containing the mutation will become shorter and shorter.

Studying this information can also show when the mutation began its dispersion. A fairly young mutation, say four hundred years old, will have a long haplotype, whereas an older disease, say fifty thousand years old, will have a shorter haplotype. You may be wondering why the mutation doesn’t just eventually disappear. Well, the answer is quite a contradiction, but after some explanation it should make a little more sense. Founder mutations prove beneficial! Now this is where you think, what? Beneficial, even with diseases like sickle cell, cystic fibrosis, and conditions like iron overload and blood clots? Yes. Even with those. This is because most founder mutations are recessive. This means you would have to have two copies of the gene (one from both parents) to be affected by the mutation. A person with only one copy of the gene is called a carrier. The carrier will pass on the gene to its offspring. Unless the parent carrier mates with another parent carrier, the offspring will not have the disease or any remote symptoms. Also, the single copy of the founder mutation gives the carrier an advantage.

Founder mutations have affected many different ethnicities. Migrations in the masses have affected the transfer and origin of many founder mutations. The frequency of a founder mutation across broad geographic areas documents the spread of the founder’s descendants. An example of a founder mutation is sickle cell disease. As an example, Africa has a high rate of malaria. Africa also has a high rate of sickle cell disease. But, as I mentioned before, some founder mutations can have benefits! Sickle cell disease completely prevents malaria. This is because malaria is a rather picky disease. Malaria, spread by a mosquito bite, will only function on healthy, whole, red blood cells. Sickle Cell disease