Missence mutation- Mutation that alters the codon so that it specifies a different amino acid is know as missense mutation. The common example is sickle cell anemia.
MCQS.
1.The gene of sickle cell anaemia is inherited by
A) Blood cells
B) Bone cells
C) Sex chromosomes
D) Autosomes
ans. D
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- In this the haemoglobin which is oxygen transporting macromolecule present in the RBC of chordate animals undergoes missense mutation.
- Haemoglobin A cosists of 2 identical alpha chains ( 141 amino acids) and 2 identical beta chains (146 amino acids). As a result the substituition of glutamic acid (GAG) to valine(GTG) takes place at aminoacid position 6 in the beta chain of haemoglobin .This changes the shape of the haemoglobin making it sickle shape due to change in shape of haemoglobin in oxygen unbound form.
MCQS.
1.The gene of sickle cell anaemia is inherited by
A) Blood cells
B) Bone cells
C) Sex chromosomes
D) Autosomes
ans. D
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