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What is the mutation that causes sickle cell disease? Is it a missense or nonsense mutation?...

What is the mutation that causes sickle cell disease? Is it a missense or nonsense mutation? Is it a transition or a transversion? What is the inheritance pattern of the disease? What population has a high number of heterozygotes?

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Substitution mutation that causes sickle cell disease. One nucleotide (A) is replaced by another nucleotide (T), which caused to change glutamic acid to valine. So it is called a missense mutation. Nucleotide adenine (purine) is replaced by thymine (pyrimidine). So it is called transversion mutation.

Normal DNA-----GAG

Mutated DNA---GTG

Normal AA-----Glutamic acid

Mutated AA--Valine.

This is an autosome linked recessive trait that is transmitted from the parent to the offspring when both the partners are carriers for the gene (heterozygous). It is a metabolic disorder characterized by a decreased oxygen transport in the blood. The decrease is due to the presence of defective haemoglobin (HbS) in place of normal haemoglobin (Hb). HbS has low affinity for oxygen and the RBC becomes sickle shaped with pointed edges

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