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    Mutation

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    ds7y6v5j49
    Mutations are changes in the DNA sequence that may occur in somatic or germ cells. Most mutations are neutral but some can be harmful, causing diseases like cancer, or beneficial by improving survival. There are two main types of mutations: chromosome mutations, which involve changes to chromosomes like deletions or duplications; and gene mutations, where the DNA sequence of a gene is altered, such as through point mutations that change a single nucleotide. Point mutations can be silent, missense, or nonsense, and frameshift mutations insert or delete nucleotides, changing the reading frame.

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    Mutation

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    ds7y6v5j49
    3 views44 pages
    Mutations are changes in the DNA sequence that may occur in somatic or germ cells. Most mutations are neutral but some can be harmful, causing diseases like cancer, or beneficial by improving survival. There are two main types of mutations: chromosome mutations, which involve changes to chromosomes like deletions or duplications; and gene mutations, where the DNA sequence of a gene is altered, such as through point mutations that change a single nucleotide. Point mutations can be silent, missense, or nonsense, and frameshift mutations insert or delete nucleotides, changing the reading frame.

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    Mutations are changes in the DNA sequence that may occur in somatic or germ cells. Most mutations are neutral but some can be harmful, causing diseases like cancer, or beneficial by improving survival. There are two main types of mutations: chromosome mutations, which involve changes to chromosomes like deletions or duplications; and gene mutations, where the DNA sequence of a gene is altered, such as through point mutations that change a single nucleotide. Point mutations can be silent, missense, or nonsense, and frameshift mutations insert or delete nucleotides, changing the reading frame.

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    3 views44 pages

    Mutation

    Uploaded by

    ds7y6v5j49
    Mutations are changes in the DNA sequence that may occur in somatic or germ cells. Most mutations are neutral but some can be harmful, causing diseases like cancer, or beneficial by improving survival. There are two main types of mutations: chromosome mutations, which involve changes to chromosomes like deletions or duplications; and gene mutations, where the DNA sequence of a gene is altered, such as through point mutations that change a single nucleotide. Point mutations can be silent, missense, or nonsense, and frameshift mutations insert or delete nucleotides, changing the reading frame.

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    Mutations

    Give the differences between the two images


    What Are Mutations?

    • Changes in the
    nucleotide sequence
    of DNA
    • May occur in somatic
    cells (aren’t passed to
    offspring)
    • May occur in gametes
    (eggs & sperm) and be
    passed to offspring
    Are Mutations
    Helpful or Harmful?
    • Mutations happen
    regularly
    • Almost all mutations are
    neutral
    • Chemicals & UV
    radiation cause
    mutations
    • Many mutations are
    repaired by enzymes
    Are Mutations
    Helpful or Harmful?
    • Some type of skin
    cancers and
    leukemia result from
    somatic mutations
    • Some mutations may
    improve an organism’s
    survival (beneficial)
    Types of
    Mutations
    Chromosome Mutations

    • May Involve:
    – Changing the
    structure of a
    chromosome
    – The loss or
    gain of part of
    a chromosome
    Chromosome Mutations

    • Five types exist:


    – Deletion
    – Inversion
    – Translocation
    – Nondisjunction
    – Duplication
    Deletion
    • Due to breakage
    • A piece of a
    chromosome is lost
    Inversion

    • Chromosome segment
    breaks off
    • Segment flips around
    backwards
    • Segment reattaches
    Duplication
    • Occurs when a
    gene sequence is
    repeated
    Translocation
    • Involves two
    chromosomes that
    aren’t homologous
    • Part of one
    chromosome is
    transferred to
    another chromosomes
    Translocation
    Nondisjunction
    • Failure of chromosomes to separate
    during meiosis
    • Causes gamete to have too many or
    too few chromosomes
    • Disorders:
    – Down Syndrome – three 21st chromosomes
    – Turner Syndrome – single X chromosome
    – Klinefelter’s Syndrome – XXY chromosomes
    Chromosome Mutation
    Animation
    Gene Mutations
    • Change in the
    nucleotide sequence
    of a gene
    • May only involve a
    single nucleotide
    • May be due to copying
    errors, chemicals,
    viruses, etc.
    Types of Gene Mutations
    • Include:
    – Point mutation

    – Frameshift
    mutation
    Point Mutation

    • Change of a single
    nucleotide
    • Includes the
    deletion, insertion, or
    substitution of ONE
    nucleotide in a gene
    TYPES of Point Mutation

    • 1. SILENT mutation
    • - mutated codon codes for the
    same amino acid
    • Ex: Orig. codon – CAA (Glu)
    • Mut. Codon – CAG ( Glu)
    • Effect: NONE
    TYPES of Point Mutation

    • 2. MISSENSE mutation
    • - mutated codon codes for a
    different amino acid
    • Ex: Orig. codon – CAA (Glu)
    • Mut. Codon – CCA ( Pro)
    • Effect: Variable
    TYPES of Point Mutation

    • 3. NONSENSE mutation
    • - mutated codon is a premature
    stop codon
    • Ex: Orig. codon – CAA (Glu)
    • Mut. Codon – UAA ( stop)
    • Effect: Usually serious
    Point Mutation

    • Sickle Cell
    disease is the
    result of one
    nucleotide
    substitution
    • Occurs in the
    hemoglobin gene
    Point Mutation
    Frameshift Mutation
    • Inserting or deleting
    one or more
    nucleotides
    • Changes the “reading
    frame” like changing a
    sentence
    • Proteins built
    incorrectly
    Frameshift Mutation
    • Original:
    – The fat cat ate the
    wee rat.
    • Frame Shift (“a” added):
    – The fat caa tet hew
    eer at.
    Amino Acid Sequence
    Changed
    Gene Mutation
    Animation
    FYI for your information
    Normal Male

    2n = 46

    31
    Normal Female

    2n = 46
    32
    Male, Trisomy 21 (Down’s)

    2n = 47
    33
    Male, Trisomy 21 (Down’s)

    2n = 47
    34
    Female Down’s Syndrome

    2n = 47 35
    Edward Syndrome/Trisomy 18

    2n = 47 36
    Edward Syndrome/Trisomy 18

    2n = 47 37
    Patau Syndrome/Trisomy 13

    2n = 47 38
    Patau Syndrome/Trisomy 13

    2n = 47 39
    Klinefelter Syndrome

    2n = 47 40
    Klinefelter Syndrome

    2n = 47 41
    Turner Syndrome

    2n = 45
    42
    Turner Syndrome

    2n = 45
    43

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