Mutation
A mutation is a permanent alteration in the DNA sequence that makes up a gene. Mutations can occur for various reasons, including errors in DNA replication, exposure to mutagenic agents such as radiation or chemicals, or as a result of natural processes within the cell. Mutations can have a range of effects, from being harmless to causing genetic disorders or contributing to the development of cancer.
Types of Mutations
There are several types of mutations:
- Point Mutation: A change in a single nucleotide within a gene, which can lead to the production of a different protein.
- Insertion: Addition of one or more nucleotides into the DNA sequence, which can result in a shift in the reading frame of the gene.
- Deletion: Removal of one or more nucleotides from the DNA sequence, which can also cause a shift in the reading frame.
- Substitution: Replacement of one nucleotide with another, potentially leading to a different amino acid being incorporated into the protein.
Effects of Mutations
The consequences of mutations can vary:
- Silent Mutation: A mutation that does not result in a change to the amino acid sequence of the protein.
- Missense Mutation: A mutation that leads to the incorporation of a different amino acid into the protein, which can alter its function.
- Nonsense Mutation: A mutation that introduces a premature stop codon, leading to the production of a truncated and likely non-functional protein.
- Frameshift Mutation: Insertion or deletion of nucleotides causes a shift in the reading frame, leading to a completely different amino acid sequence.
Study Guide
Here are some key points to remember about mutations for your study:
- What is a mutation?
- What are the different types of mutations?
- How do mutations occur?
- What are the potential effects of mutations on proteins?
- What are examples of genetic disorders caused by mutations?
Understanding mutations is crucial in the field of genetics and has important implications for human health and disease.
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