Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
17. Mutation, Repair, and Recombination
Types of Mutations
Problem 14a
Textbook Question
Several types of mutation are identified and described in the chapter. These include (1) promoter mutation, (2) splice site mutation, (3) missense mutation, (4) frameshift mutation, and 5) nonsense mutation. Match the following mutation descriptions with the type(s) of mutations listed above. More than one mutation type might match a description.
A null mutation that does not produce any functional protein product.
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span>Step 1: Understand the term 'null mutation'. A null mutation is a type of mutation that results in a complete loss of function of the gene product. This means that the protein produced is non-functional or not produced at all.</span
span>Step 2: Consider the types of mutations listed. A null mutation could be caused by several types of mutations, including those that severely disrupt the gene's ability to produce a functional protein.</span
span>Step 3: Evaluate the 'nonsense mutation'. A nonsense mutation introduces a premature stop codon into the DNA sequence, leading to a truncated and usually non-functional protein. This can result in a null mutation.</span
span>Step 4: Evaluate the 'frameshift mutation'. A frameshift mutation involves the insertion or deletion of nucleotides that are not in multiples of three, disrupting the reading frame. This often results in a completely different and non-functional protein, potentially causing a null mutation.</span
span>Step 5: Consider other mutations. While promoter and splice site mutations can also lead to a lack of functional protein, they do so by affecting gene expression or mRNA processing, respectively. These could also result in a null mutation if they prevent any protein from being produced.</span
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Nonsense Mutation
A nonsense mutation is a type of point mutation where a single nucleotide change results in a premature stop codon in the coding sequence of a gene. This leads to the production of a truncated protein that is usually nonfunctional, effectively creating a null mutation. Understanding this mutation is crucial for recognizing how genetic information can be disrupted, leading to loss of function.
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Null Mutation
A null mutation refers to any mutation that results in the complete loss of function of a gene product. This can occur through various mechanisms, including nonsense mutations, frameshift mutations, or deletions that eliminate essential coding sequences. Recognizing null mutations is important for studying gene function and the effects of genetic disorders.
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Frameshift Mutation
A frameshift mutation occurs when nucleotides are inserted or deleted from the DNA sequence, causing a shift in the reading frame of the genetic code. This alteration can lead to the production of entirely different and often nonfunctional proteins. Frameshift mutations can also result in premature stop codons, contributing to null mutations and further emphasizing their significance in genetic analysis.
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