Exam 11: Mutation: the Source of Genetic Variation

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The change of the pattern of gene expression without changing the nucleotide sequence of DNA is termed _________________.

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____________________ are mutations involving the increase of the number of repeat sequences in genes.

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How are thymine dimers generated? What are their effects and how are they handled by the cell?

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A purine or pyrimidine that differs in chemical structure from a purine or pyrimidine normally found in DNA or RNA is called a _____________.

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Explain why the phenomena of anticipation and genomic imprinting seemed at first, before they were understood, to violate basic concepts of Mendelian genetics.

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Queen Victoria had an allele for alkaptonuria that originated by mutation in one of her parents.

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In pedigree analysis, it is easiest to identify the individual most likely to be the source of the mutation if the mutation is

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Explain how a deficiency in the chromosomal contribution of one parent might be compensated for by an excess in the contribution of the other parent.

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If a mutant allele appears in a family with no history of that disorder and is fully expressed by everyone carrying that allele, it most like is a ______________ allele.

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Occasionally, individuals have eyes of different colors. How would you explain this mutation? Do you think it is heritable?

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Genomic imprinting is a phenomenon that does not violate Mendelian principles of segregation and independent assortment.

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In diseases like xeroderma pigmentosum, why is it that mutations in several different genes can produce the same phenotypic effect?

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The differential expression of genes depending on parental origin is called ____________________.

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Which of the following could result in the most serious type of mutation?

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Fragile-X syndrome is an example of a disorder caused by trinucleotide repeats.

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A mutation that would change an amino acid coding codon into a termination codon is called a _____________ mutation.

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Explain why individuals with cystic fibrosis may have different levels of severity of the disease.

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