Mutations

Rucete ✏ Biology In a Nutshell

1. What Are Mutations?

  • Mutations are changes in the DNA sequence of a gene.
  • They can affect the structure and function of proteins, and may be harmless, harmful, or beneficial.

2. Types of Point Mutations

a) Substitution

  • One correct nucleotide is replaced with an incorrect nucleotide in the DNA sequence.

b) Deletion

  • One or more nucleotides are removed from the DNA sequence.

c) Insertion

  • One or more extra nucleotides are added to the DNA sequence.

d) Frameshift Mutation

  • Caused by insertions or deletions that are not multiples of three.
  • Shifts the reading frame and changes every amino acid after the mutation.

3. Types of Point Mutation Effects

a) Silent Mutation

  • A substitution that does not change the amino acid sequence of the protein.

b) Missense Mutation

  • A substitution that changes one amino acid in the protein.
  • Example: Sickle-cell disease results from a missense mutation in the hemoglobin gene.

c) Nonsense Mutation

  • A substitution that creates a stop codon, leading to early termination of protein synthesis.

4. DNA Repair Mechanisms

a) Proofreading

  • DNA polymerase corrects errors during replication by removing and replacing mismatched nucleotides.

b) Mismatch Repair

  • Detects and fixes mismatches that escape proofreading.

c) Excision Repair

  • Removes damaged or mutated nucleotides caused by mutagens (e.g., UV light or chemicals).

Post a Comment

Previous Post Next Post