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Where is the sickle cell mutation found in the human genome?
GeneticsBlood disorders
Quick Answer
The sickle cell mutation is found in the HBB gene on chromosome 11. It changes hemoglobin and can cause sickle cell disease.
The Full Story
The classic sickle cell mutation is a single nucleotide change in the HBB gene on chromosome 11. This alters the beta-globin protein in hemoglobin, producing hemoglobin S. Under low-oxygen conditions, red blood cells can become rigid and sickle-shaped, leading to pain and organ damage. The mutation is most common in populations from malaria-endemic regions because carriers have some protection against severe malaria.
Key Facts
1.Located in the HBB gene on chromosome 11
2.Caused by a single base substitution
3.Carrier status can protect against severe malaria
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Suggested video title for this topic:
"The one-letter DNA change with huge medical effects."