2024-01-22T02:52:44+03:00[Europe/Moscow] en true <p>Define gene mutation.</p>, <p>Name the 3 types of gene mutations.</p>, <p>Name the 4 impacts of gene mutation.</p>, <p>Describe substitution mutation.</p>, <p>Describe addition mutation.</p>, <p>Describe deletion mutation.</p>, <p>Describe effect of frameshift mutation.</p>, <p>Describe effect of missense mutation.</p>, <p>Describe effect of nonsense mutation.</p>, <p>Describe effect of silent mutation.</p>, <p>Describe sickle cell anaemia and outline its effects on an organism.</p> flashcards
H2 Biology 9 - Gene mutation

H2 Biology 9 - Gene mutation

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  • Define gene mutation.

    a change in the sequence of DNA nucleotides in the gene

  • Name the 3 types of gene mutations.

    1. base-pair substitution

    2. base-pair addition

    3. base-pair deletion

  • Name the 4 impacts of gene mutation.

    1. frameshift mutation

    2. missense mutation

    3. nonsense mutation

    4. silent mutation

  • Describe substitution mutation.

    replacement of 1 nucleotide base pair with another base pair in a gene

  • Describe addition mutation.

    gain of 1 or more nucleotide base pairs in a gene

  • Describe deletion mutation.

    loss of 1 or more nucleotide base pairs in a gene

  • Describe effect of frameshift mutation.

    reading frame altered -> all nucleotides downstream from mutation improperly grouped into incorrect codons -> read in diff. sets of 3

  • Describe effect of missense mutation.

    change in amino acids w/ diff. properties due to diff. R groups -> change in polypeptide sequence

  • Describe effect of nonsense mutation.

    stop codon(UAA/UGA/UAG) coded for in mRNA -> translation terminated prematurely, produces truncated/shortened protein

  • Describe effect of silent mutation.

    due to degeneracy of genetic code, same amino acid is still coded for -> no change in polypeptide sequence

  • Describe sickle cell anaemia and outline its effects on an organism.

    SBPS of gene coding for B chain; T->A >

    in mRNA, GAG->GUG, hydrophilic glutamic acid->hydrophobic valine @ 6th a.a position of B chain >

    △ 3D conformation of Hb; HbA->HbS >

    deoxygenated HbS solubility ↓; @ areas of ↓ O2 conc, hydrophobic areas of diff. HbS molecules stick tgt -> HbS molecules polymerise, form rigid fibres >

    △ from HbA->HbS results in △ RBC shape from circular, biconcave to sickle shaped >

    sickle shaped RBCs block capillaries, impede blood flow >

    deprive organs of O2, lead to organ damage >

    sickle shaped RBCs shorter lifespan, haemolyse readily resulting in anaemia