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The mutations that involve addition, deletion or substitution of a single base pair in a gene are referred to as
  • a)
    point mutations
  • b)
    lethal mutations
  • c)
    silent mutations
  • d)
    retrogressive mutations
Correct answer is option 'A'. Can you explain this answer?
Most Upvoted Answer
The mutations that involve addition, deletion or substitution of a sin...
Most of the gene. mutations involve a change in only a single nucleotide or nitrogen base of the cistron. These gene mutations are called point mutations e.g. sickle cell anaemia in which polypeptide chain coding for haemoglobin contains valine instead of glutamic acid due to substitution of T by A in second position of triplet codon.
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The mutations that involve addition, deletion or substitution of a sin...
Understanding Point Mutations
Point mutations are specific types of genetic mutations that involve changes in a single nucleotide base pair within a gene. These mutations can be categorized into three primary types:
  • Substitution: One base pair is replaced by another. This can be a transition (purine to purine or pyrimidine to pyrimidine) or a transversion (purine to pyrimidine or vice versa).
  • Insertion: An extra base pair is added to the DNA sequence, which can lead to a frameshift mutation if it alters the reading frame of the gene.
  • Deletion: A base pair is removed from the DNA sequence, which can also cause a frameshift mutation.

Significance of Point Mutations
Point mutations are crucial in the study of genetics and evolution because they can lead to changes in protein structure and function. Depending on the nature of the mutation, they can have various impacts:
  • Silent Mutations: These do not change the amino acid sequence of a protein and typically have no effect on the organism.
  • Missense Mutations: These result in a different amino acid being incorporated into the protein, which can affect its function.
  • Nonsense Mutations: These create a premature stop codon, resulting in a truncated protein that is often nonfunctional.

Conclusion
Thus, the term "point mutations" aptly describes mutations that involve the alteration of a single base pair in a gene, making option 'A' the correct answer. Understanding these mutations is fundamental in fields such as genetics, molecular biology, and medicine, as they play a critical role in the diversity of life and the mechanisms of diseases.
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