Exam 11: Mutation: the Source of Genetic Variation

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Describe three ways that DNA mutations can alter the protein product.

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1. Missense mutations: These mutations occur when a single nucleotide change results in a different amino acid being incorporated into the protein sequence. This can alter the structure and function of the protein.

2. Nonsense mutations: These mutations introduce a premature stop codon into the DNA sequence, resulting in the production of a truncated and often non-functional protein.

3. Frameshift mutations: These mutations occur when nucleotides are inserted or deleted from the DNA sequence, causing a shift in the reading frame. This can lead to a completely different protein sequence being produced, often resulting in a non-functional protein.

Which one of the following statements about genomic imprinting is FALSE?

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C

Thymine dimers

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A

It is possible to have a mutation in a gene that produces no change whatsoever in the protein coded for by that gene.

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In disorders caused by multiple trinucleotide repeats, the more repeats there are the later the symptoms of the disorder become manifested.

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Frameshift mutations include nucleotide substitutions.

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The ability of DNA polymerase to repair its own nucleotide mismatches is called ____________________.

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The largest source of radiation people are exposed to in the United States is from _____________.

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Describe the DNA mutation in fragile-X syndrome and how it changes from generation to generation.

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The base analog, 5-bromouracil substitutes for the nucleotide base, _____________, in a DNA molecule.

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Nonsense mutations are mutations caused by nucleotide substitutions that change one amino acid into another.

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Radiation from natural sources (as opposed to sources resulting from human activity) is called ____________________ radiation.

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Common foods that we eat may contain mutagens.

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The chemical group associated with epigenetic changes to our genome is the _________ group.

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A ____________________ heterozygote is an individual with two different mutant alleles of a gene.

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A protein encoding region of a gene has the following DNA sequence: GTAGCGTCACAAACAAATCAGCTC. Determine how the final protein product would be altered by each of the following mutations. a. Substitution of a T for the C in the 10th base. b. Substitution of a G for the C in the 21st base. c. Insertion of a T between the fourth and fifth base. d. Insertion of a GTA between the 12th and 13th base. e. Deletion of the first base.

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Compare the effects of nonsense mutations, sense mutations, nucleotide substitutions, and frameshift mutations on protein synthesis.

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A mutation occurs that changes a C to a T in DNA such that, in the mRNA transcribed from this piece of DNA, a UGG codon is changed to UGA. This mutation is a

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The appearance of symptoms of a genetic disorder at earlier ages in succeeding generations is ____________________.

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Some genes with a number of trinucleotide repeats significantly above normal produce a mutant phenotype.

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