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Question

What is point mutation? Give an example.


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Solution

Point mutation:

Point mutation refers to a change in one or few nucleotides in the DNA.

The different types of point mutations are:

  1. Substitution: One nucleotide is replaced by another nucleotide.
  2. Insertion: An extra nucleotide is inserted into the sequence.
  3. Deletion: A nucleotide is deleted from the sequence.

Examples of point mutations:

  1. Cystic fibrosis is caused by the deletion of three nucleotides in the CFTR gene.
  2. Sickle cell anemia is caused by a single substitution wherein a glutamic acid is replaced by valine.

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