Thursday, 19 May 2016

Missence mutation

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.
  • 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.
For example,  sickle-cell disease  is caused by a single point mutation (a missense mutation) in the beta- hemoglobin   ge...
                                               Image source-http://www.slideshare.net/ShahabRiaz/genetic-disorders-2
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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