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A Mutation Story Catch Up Fridays

The document discusses the sickle cell mutation and its prevalence in African populations. It describes how the sickle cell mutation provides resistance to malaria, explaining its persistence despite also causing sickle cell anemia. Carriers of one copy of the sickle cell gene have resistance to malaria without severe symptoms, whereas two copies causes the disease. The mutation has remained common in areas hard-hit by malaria due to this evolutionary trade-off.

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14 views

A Mutation Story Catch Up Fridays

The document discusses the sickle cell mutation and its prevalence in African populations. It describes how the sickle cell mutation provides resistance to malaria, explaining its persistence despite also causing sickle cell anemia. Carriers of one copy of the sickle cell gene have resistance to malaria without severe symptoms, whereas two copies causes the disease. The mutation has remained common in areas hard-hit by malaria due to this evolutionary trade-off.

Uploaded by

iilxnaua
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd
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A Mutation Story

A gene known as HbS (sickle cell hemoglobin) was the center of a medical and evolutionary
detective story that began in the middle 1940s in Africa. Doctors noticed that patients who had sickle cell
anemia, a serious hereditary blood disease, were more likely to survive malaria, a disease which kills
some 1.2 million people every year. What was puzzling was why sickle cell anemia was so prevalent in
some African populations.

How could a "bad" gene -- the mutation that causes the sometimes-lethal sickle cell disease --
also be beneficial? On the other hand, if it didn't provide some survival advantage, why had the sickle
gene persisted in such a high frequency in the populations that had it?

The sickle cell mutation is a like a typographical error in the DNA code of the gene that tells the
body how to make a form of hemoglobin (Hb), the oxygen-carrying molecule in our blood. Every person
has two copies of the hemoglobin gene. Usually, both genes make a normal hemoglobin protein. When
someone inherits two mutant copies of the hemoglobin gene, the abnormal form of the hemoglobin
protein causes the red blood cells to lose oxygen and warp into a sickle shape during periods of high
activity. These sickled cells become stuck in small blood vessels, causing a "crisis" of pain, fever, swelling,
and tissue damage that can lead to death. This is sickle cell anemia.

But it takes two copies of the mutant gene, one from each parent, to give someone the full-
blown disease. Many people have just one copy, the other being normal. Those who carry the sickle cell
trait do not suffer nearly as severely from the disease.

Researchers found that the sickle cell gene is especially prevalent in areas of Africa hard-hit by
malaria. In some regions, as much as 40 percent of the population carries at least one HbS gene.

It turns out that, in these areas, HbS carriers have been naturally selected, because the trait
confers some resistance to malaria. Their red blood cells, containing some abnormal hemoglobin, tend
to sickle when they are infected by the malaria parasite. Those infected cells flow through the spleen,
which culls them out because of their sickle shape -- and the parasite is eliminated along with them.

Scientists believe the sickle cell gene appeared and disappeared in the population several times,
but became permanently established after a particularly vicious form of malaria jumped from animals to
humans in Asia, the Middle East, and Africa.

In areas where the sickle cell gene is common, the immunity conferred has become a selective
advantage. Unfortunately, it is also a disadvantage because the chances of being born with sickle cell
anemia are relatively high.

For parents who each carry the sickle cell trait, the chance that their child will also have the trait
-- and be immune to malaria -- is 50 percent. There is a 25 percent chance that the child will have neither
sickle cell anemia nor the trait which enables immunity to malaria. Finally, the chances that their child
will have two copies of the gene, and therefore sickle cell anemia, is also 25 percent. This situation is a
stark example of genetic compromise, or an evolutionary "trade-off."
1. Based on the article you have read, what is your idea about mutation?
2. Discuss sickle cell mutation.
3. In the article, what country is sickle cell gene prevalent?
4. Give at least two more diseases caused by mutation and describe each briefly.

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