Human Genetic Diversity: Mutations and Polymorphisms
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Questions and Answers

What is responsible for the genetically determined variability among humans?

  • Genetically determined phenotypic variability
  • Sequence of nuclear DNA (correct)
  • Chromosome number alterations
  • Variation in mitochondrial DNA
  • Which type of DNA sequence differences have little or no effect on phenotype?

  • Variation in mitochondrial DNA
  • Genetically determined phenotypic variability
  • Chromosome number alterations
  • Small fraction of different DNA sequences (correct)
  • What is responsible for causing disease in humans?

  • Changes in DNA sequence of individual genes (correct)
  • Changes in mitochondrial genomes
  • Chromosome number alterations
  • Genetically determined phenotypic variability
  • What do gene mutations alter?

    <p>Individual genes</p> Signup and view all the answers

    What is nearly 99.9% identical between any two humans?

    <p>Sequence of nuclear DNA</p> Signup and view all the answers

    Which type of mutation may lead to the formation of a variant protein with altered properties?

    <p>A single nucleotide substitution in a DNA sequence</p> Signup and view all the answers

    What is the term for mutations occurring in cancer and cannot be transmitted?

    <p>Somatic mutations</p> Signup and view all the answers

    What mechanism introduces errors during the normal process of DNA replication?

    <p>Failure to repair DNA after damage</p> Signup and view all the answers

    Which type of DNA changes are usually corrected through proofreading mechanisms?

    <p>Errors introduced during the normal process of DNA replication</p> Signup and view all the answers

    What percentage of replication errors are corrected by a series of DNA repair enzymes?

    <p>99.9%</p> Signup and view all the answers

    What is responsible for the genetically determined variability among humans?

    <p>Small fraction of DNA sequence differences</p> Signup and view all the answers

    Which type of DNA changes may have little or no effect on phenotype?

    <p>Large amounts of base changes</p> Signup and view all the answers

    What process alters chromosome number, structure, or individual genes?

    <p>Gene mutations</p> Signup and view all the answers

    Which type of DNA sequence differences are directly responsible for causing disease?

    <p>Gene mutations</p> Signup and view all the answers

    Which type of mutation may lead to complete loss of expression of a gene or the formation of a variant protein with altered properties?

    <p>Missense mutation</p> Signup and view all the answers

    What is the term for mutations that occur in cells that will populate the germline and are usually inherited?

    <p>Germline mutations</p> Signup and view all the answers

    What mechanism is responsible for correcting more than 99.9% of errors of DNA replication?

    <p>Proofreading mechanisms</p> Signup and view all the answers

    What are the two basic mechanisms of gene mutations?

    <p>Error during DNA replication and DNA repair failure</p> Signup and view all the answers

    Which type of DNA changes is usually corrected through proofreading mechanisms?

    <p>Replication-related DNA changes</p> Signup and view all the answers

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