Compare and contrast nucleotide-pair substitutions, silent mutations, missense mutations, nonsense mutations, and frameshift mutations and recognize examples of each. State which types are more likely to produce a severe change in phenotype.
Predict the effect on the resulting protein when given a nucleotide sequence that has suffered a mutation mutation.
Describe how a point mutation may have a negative, positive, or neutral impact on phenotype.
Compare and contrast nucleotide-pair substitutions, silent mutations, missense mutations, nonsense mutations, and frameshift mutations and recognize examples of each. State which types are more likely to produce a severe change in phenotype.
Predict the effect on the resulting protein when given a nucleotide sequence that has suffered a mutation mutation.
Describe how a point mutation may have a negative, positive, or neutral impact on phenotype.
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Part B
Think about the DNA coding sequence of a gene. If an A were swapped for a T, what kind of mutation could it cause and why?
| a) It could cause a frameshift nonsense or frameshift missense mutation because it would change the reading frame of the codon triplet. | ||||||||||||||||||||||||||||
| b) It could cause a silent, missense, or nonsense mutation because those are the types that can be caused by a nucleotide-pair substitution like this one. | ||||||||||||||||||||||||||||
| c) It could cause a nonsense mutation because the sequence would no longer be the same, so the protein would be shorter and non-functional. | ||||||||||||||||||||||||||||
| d) It could cause a silent mutation because A and T are complementary to each other so it is not really a substitution mutation. Part C Why is a frameshift missense mutation more likely to have a severe effect on phenotype than a nucleotide-pair substitution missense mutation in the same protein?
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| Types of Mutation | |
| A sentence made of three-letter words can provide an analogy to the effect of mutations on a gene's DNA sequence. | |
| Normal | THE ONE BIG FLY HAD ONE RED EYE |
| Missense | THQ ONE BIG FLY HAD ONE RED EYE |
| Nonsense | THE ONE BIG |
| Frameshift | THE ONE QBI GFL YHA DON ERE DEY |
| Deletion | THE ONE BIG HAD ONE RED EYE |
| Insertion | THE ONE BIG WET FLY HAD ONE RED EYE |
| Duplication | THE ONE BIG FLY FLY HAD ONE RED EYE |
| Expanding mutation | |
| Generation 1 | THE ONE BIG FLY HAD ONE RED EYE |
| Generation 2 | THE ONE BIG FLY FLYFLY HAD ONE RED EYE |
| Generation 3 | THE ONE BIG FLY FLYFLYFLYFLY HAD ONE RED EYE |
Describe a genetic disorder resulting from one of the mutations listed in the table. What is the mode of inheritance of your chosen disorder? What does the affected gene sequence look like in comparison to the normal sequence? What is the change in the amino acid sequence as a result of the disorder?
Describe the DNA repair process in eukaryotes. Why do you think this process is absent in mitochondrial DNA? What properties of mitochondrial DNA prevent it from repairing itself?
Describe two purposes of performing a karyotype (other than detecting abnormal chromosome numbers). In your opinion, should karyotyping be performed in the early stages of pregnancy to look for genetic disorders? Why or why not?
Identify two types of chromosomal abnormalities that can result from addition, deletion, or duplication of genetic material and describe how it happens. Describe a genetic disorder that can result from one of the aberrations identified by you.
