bio 111 tech and mutations

• BRAC1 gene


  gene typically found for breast cancer when mutation is found
• Mutations


  Random errors in gene replication that lead to a change in the sequence of nucleotides. The source of all genetic diversity.
• Somatic Mutation


  mutation that occurs in cells of the body other than gametes
• Germline mutations


  mutation in a cell that produces gametes
• loss of function mutations


  causes genes to not be expressed at all or if the gene is expressed its dysfunctional
• gain of function mutations


  lead to gene products or protein with altered function
• restrictive conditions
• conditional mutants


  the phenotype is present only under restricted conditions and the phenotype is not detected under permissive conditions
• reversion mutation


  DNA mutates back to original sequence
• point mutation


  are an insertion, deletion, or substitution of asingle base pair for anothe
• transition


  when a purine is replaced with another purine
• transversion


  purine to pyrimidine

  pyrimidine to purine
• silent mutation


  A mutation that changes a single nucleotide, but does not change the amino acid created.
• missense mutation


  A base-pair substitution that results in a codon that codes for a different amino acid, sickle cell
• nonsense mutation


  A mutation that changes an amino acid codon to one of the three stop codons
• loss of stop mutation


  a change from a stop codon to a sense codon
• frameshift mutation


  mutation that involves the insertion or deletion of a nucleotide in the DNA sequence, altering the mRNA reading
• polyploid

  condition in which an organism has extra sets of chromosomes
• deletion


  A change to a chromosome in which a fragment of the chromosome is removed.
• duplication


  change to a chromosome in which part of the chromosome is repeated
• inversion


  caused by breaking and rejoining where thechromosome is flipped in the opposite direction for the origin
• translocation


  Change to a chromosome in which a fragment of one chromosome attaches to a nonhomologous chromosome.
• spontaneous mutation


  a random change in the DNA arising from errors in replication that occur randomly
• induced mutations


  needs a mutagen, caused by chemical or toxic exposure
• deletion of X chromosome

  Duchenne muscular dystrophy
• fragile X syndrome


  a disorder produced by injury to a gene on the X chromosome, producing mild to moderate mental retardation
• mutagen


  A chemical or physical agent that interacts with DNA and causes a mutation.
• recombinant DNA


  DNA produced by combining DNA from different sources
• sticky ends


  Single stranded ends of DNA left after cutting with enzymes
• clone


  An organism that is genetically identical to the organism from which it was produced
• transformation


  process in which one strain of bacteria is changed by a gene or genes from another strain of bacteria
• transfection


  Insertion of recombinant DNA into animal cells.
• selectable marker


  a gene introduced into a cell, especially a bacterium or to cells in culture, that confers a trait suitable for artificial selection.
• replicon


  DNA polymerase will only copy genes with origins of replication
• plasmids


  Circular DNA molecules that can replicate independently of the main chromosomes of bacteria
• reporter gene


  A genetic marker included in recombinant DNA to indicate the presence of the recombinant DNA in a host cell.
• Green Fluroescent Protein


  Tagged functional/living cells

  Visualize specific protein/structure in cell

  Isolated from jellyfish - glows green
• complimentary DNA


  synthetic DNA in which the sequence of bases is complementary to that of a given example of DNA.
• reverse transcriptase


  a polymerase that catalyzes the formation of DNA using RNA as a template
• CRISPR


  a collection of DNA sequences that tells Cas9 exactly where to cut