WK 5: Genetics 3: Mutations and Pedigrees

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Questions and Answers

What is the result of an alteration in the copy number of a complete set of chromosomes?

  • Chromosomal rearrangement (correct)
  • Polyploidy
  • Aneuploidy
  • Gene mutation

What is the term for a cell having three sets of chromosomes?

  • Haploid
  • Diploid
  • Triploid (correct)
  • Aneuploid

What is the function of the centromere in a chromosome?

  • To attach spindle fibers (correct)
  • To regulate gene expression
  • To stain chromosomes
  • To synthesize proteins

What is the result of an error during meiosis that leads to a change in the number of chromosomes in a cell?

<p>Aneuploidy (A)</p> Signup and view all the answers

What is the term for a change in the structure of an individual chromosome?

<p>Chromosomal rearrangement (B)</p> Signup and view all the answers

What is the term for a cell having a single set of chromosomes?

<p>Haploid (A)</p> Signup and view all the answers

What is the term for a cell having more than two sets of chromosomes?

<p>Polyploid (A)</p> Signup and view all the answers

What is the outcome of trisomy 21?

<p>Near-normal life expectancy with many deleterious effects (B)</p> Signup and view all the answers

What is the purpose of crossing over in meiosis?

<p>To increase genetic variation (A)</p> Signup and view all the answers

What type of mutation can occur due to chromosomal rearrangements?

<p>Gene deletion (D)</p> Signup and view all the answers

What is the result of a chromosomal rearrangement in humans?

<p>Changes to chromosome set copy number (A)</p> Signup and view all the answers

What type of mutation is a change in a single nucleotide that results in a premature stop codon?

<p>Nonsense mutation (A)</p> Signup and view all the answers

What is the result of nondisjunction during meiosis?

<p>Aneuploidy (D)</p> Signup and view all the answers

What is the purpose of a pedigree in genetics?

<p>To map genetic disease/disorder throughout a family tree (B)</p> Signup and view all the answers

What is the function of the promoter and upstream regulatory elements in a gene?

<p>To regulate the expression of the gene (A)</p> Signup and view all the answers

What is a characteristic of Robertsonian translocation?

<p>Unequal exchange between non-homologous chromosomes (A)</p> Signup and view all the answers

What is the result of a non-reciprocal translocation during meiosis?

<p>Deletion of genetic material (D)</p> Signup and view all the answers

What is the term for the incorrect alignment of homologous chromosomes during meiosis?

<p>Non-disjunction (A)</p> Signup and view all the answers

What is the result of an unbalanced reciprocal translocation?

<p>Loss of genetic material (B)</p> Signup and view all the answers

What is the type of mutation that results in a change in the reading frame of a gene?

<p>Frameshift mutation (A)</p> Signup and view all the answers

What is the term for the fusion of two non-homologous chromosomes?

<p>Robertsonian translocation (B)</p> Signup and view all the answers

What is the primary mechanism of evolution?

<p>Mutation (B)</p> Signup and view all the answers

What type of mutation introduces a stop codon?

<p>Nonsense mutation (B)</p> Signup and view all the answers

What is the purpose of a pedigree in genetics?

<p>To determine the inheritance pattern of a genetic disorder (A)</p> Signup and view all the answers

What symbol is used to represent a female in a pedigree?

<p>(A), (B), (C), (D)</p> Signup and view all the answers

What is the effect of a frameshift mutation on the protein produced by a gene?

<p>The reading frame of the gene is altered (B)</p> Signup and view all the answers

Which type of mutation adds or deletes a codon?

<p>Inframe mutation (A)</p> Signup and view all the answers

What is the purpose of analyzing a pedigree in genetics?

<p>All of the above (D)</p> Signup and view all the answers

What is the effect of a missense mutation on the protein produced by a gene?

<p>A single amino acid is changed (C)</p> Signup and view all the answers

What is the term for the most common version of a gene in a population?

<p>Wild-type allele (A)</p> Signup and view all the answers

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