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    Notes 3-Mutations

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    zhongliisminee

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    Notes 3-Mutations

    Uploaded by

    zhongliisminee
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    Notes 3-Mutations

    Uploaded by

    zhongliisminee

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    of 12

    Mutations

    • Mutation: A change in the DNA sequence


    – Mutations alter (change) genes
    • Mutations can be:
    - detrimental to the organism
    EX: Cancer, sickle cell anemia
    - neutral - have no effect
    EX: hair color
    - beneficial
    EX: skin color
    A gene is a sequence of DNA that codes for a protein
    (and determines a trait /characteristic).
    Gene
    Sequence

    Start signal Gene Stop signal


    Types of Mutations
    1. GENE MUTATIONS: Mutations that
    produce changes in a single gene
    a. Point mutations
    b. Frameshift mutations

    2. CHROMOSOMAL MUTATIONS:
    changes in the number or structure of
    chromosomes
    1. Gene Mutations: Changes in the
    DNA sequence of a particular gene.

    A. Point Mutation
    Change in one or a
    few bases.
    One base is changed
    to another:
    substitution
    Substitutions
    usually affect a
    single amino
    acid
    Sickle Cell Anemia
    • Problem: a point mutation in
    the gene that codes for
    hemoglobin, the protein that
    carries the oxygen.
    • Normal hemoglobin makes
    normal red blood cells.
    • Mutated hemoglobin changes
    the shape of the cells. Sickled
    red blood cells get stuck in
    narrow blood vessels,
    damaging organs. It can be
    fatal.
    1 amino acid out of 237 is
    different!!
    B. Frameshift
    Mutation
    These mutations
    occur when a base
    is inserted or
    deleted from the
    DNA sequence.
    Insertions and
    deletions affect the
    reading frame of a
    protein by shifting
    the codons.
    Cystic Fibrosis: 3 DNA bases
    deleted (inherited disease)
    Chromosome
    #7

    CFTR
    gene
    The cells in the
    3 DNA bases are The transport lungs can’t
    missing. The amino protein in the cell transport chloride
    acid phenylalanine is membrane does ions. As a result, the
    missing from a not work lungs become
    protein in the cell clogged with a thick
    membrane. mucus.
    2. Chromosomal Mutations:
    Changes in the number and structure of
    chromosomes (involves many genes)
    A. Deletion: a piece of chromosome is lost

    B. Duplication: a piece of chromosome is


    duplicated
    C. Inversion: a piece of chromosome is
    reversed or flipped around

    D. Translocation: A piece of chromosome


    breaks off and attaches to another
    Are mutations good or bad?
    • Mutations that cause drastic changes in the
    structure of a protein can be detrimental
    (cystic fibrosis, sickle cell anemia) ☹
    • If the change affects only one base, the
    mutation may be neutral because the amino
    acid sequence may not change =
    • Some mutations are the source of genetic
    variability (variation) in species, and these
    changes can be beneficial. ☺
    Are all mutations passed to the
    offspring?
    • Only mutations that occur in the
    reproductive cells (gametes) can be
    passed to the offspring.

    • Mutations that occur in the body cells


    (somatic) affect the living individual but
    are not passed to the offspring.
    Mutagens or mutagenic agents
    • Mutagens: a natural or human-made agent
    which can change the structure or
    sequence of DNA.
    - Chemicals: Asbestos, Mustard gas.
    (Poisoned gas used in World Wars I and II,
    cause mutations in cells)
    - Radiation: X-rays, UV radiation (Ultraviolet
    light). UV radiation damages the DNA in the
    skin cells and the cells cannot control cell
    division. It causes skin cancer.

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