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    CHP 9 Mutationn

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    SIMBA The Lion King
    This document discusses different types of mutations, including gene mutations and chromosomal mutations. Gene mutations include base substitutions, insertions, deletions, and inversions that change the DNA sequence of a gene. Chromosomal mutations involve changes in chromosome structure through deletions, duplications, inversions, and translocations, or changes in chromosome number such as aneuploidy and polyploidy. Mutations can be spontaneous or induced by mutagens like radiation or chemicals, and they contribute to genetic variation and evolution.

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    CHP 9 Mutationn

    Uploaded by

    SIMBA The Lion King
    24 views53 pages
    This document discusses different types of mutations, including gene mutations and chromosomal mutations. Gene mutations include base substitutions, insertions, deletions, and inversions that change the DNA sequence of a gene. Chromosomal mutations involve changes in chromosome structure through deletions, duplications, inversions, and translocations, or changes in chromosome number such as aneuploidy and polyploidy. Mutations can be spontaneous or induced by mutagens like radiation or chemicals, and they contribute to genetic variation and evolution.

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    Chp 9 Mutationn

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    This document discusses different types of mutations, including gene mutations and chromosomal mutations. Gene mutations include base substitutions, insertions, deletions, and inversions that change the DNA sequence of a gene. Chromosomal mutations involve changes in chromosome structure through deletions, duplications, inversions, and translocations, or changes in chromosome number such as aneuploidy and polyploidy. Mutations can be spontaneous or induced by mutagens like radiation or chemicals, and they contribute to genetic variation and evolution.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    24 views53 pages

    CHP 9 Mutationn

    Uploaded by

    SIMBA The Lion King
    This document discusses different types of mutations, including gene mutations and chromosomal mutations. Gene mutations include base substitutions, insertions, deletions, and inversions that change the DNA sequence of a gene. Chromosomal mutations involve changes in chromosome structure through deletions, duplications, inversions, and translocations, or changes in chromosome number such as aneuploidy and polyploidy. Mutations can be spontaneous or induced by mutagens like radiation or chemicals, and they contribute to genetic variation and evolution.

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    of 53

    Mutation

    7.1 Mutation 7.3 Chromosomal


    classification and types mutation
    Chromosomal
    Definition aberration
    7.2 Gene mutation Chromosomal
    Classification
    number alteration
    Base
    Types substitution
    Base insertion
    Mutagen
    Base deletion

    Base inversion
    MUTATION
     Heritable changes in
    the amount or
    structure of DNA, or
    changes in the
    sequence of
    nucleotide bases of a
    gene.
     Occur randomly and
    spontaneously.
     Account for
    evolutionary changes
    in organisms.
    2 types of mutation:
    1. Gene mutation
    2. Chromosome mutation
    7.1 Mutation classification and types

    Mutation classification

    Genetic Mutation Chromosomal Mutation

    -Structural change /
    -Base substitution Chromosome Aberration
    - Base insertions
    - Base deletions -Alterations of chromosome
    number
    - Base inversion
     Aneuploidy
     Euploidy /
    Polyploidy
    7.1 Mutation classification and types
    Types of mutation

    Spontaneous mutation Induced mutation

     mistakes happen
    spontaneously during
    DNA replication, DNA mutations that cause by
    repair, or DNA mutagen
    recombination.
    e.g: exposure to mutagen
    e.g: nondisjunction during
    meiosis
    ( details will be explain in
    16.3)
    MUTAGEN
     A physical or chemical agent which
    induces a higher rate of mutation by
    altering the structure or sequence of
    nucleotide bases in DNA.
     Two types of mutagens:

    - physical mutagen
    - chemical mutagen
    TYPES OF MUTAGEN

     •PHYSICALMUTAGEN
     •UV rays
     •Gamma rays
     •X-rays
     •CHEMICALMUTAGEN
     •Colchicine
     •Ethidium bromide
    16.1 Mutation classification and types

    Mutant

    An organism carrying a gene that has


    undergone a mutation that shows new
    phenotype traits as a result from
    mutation
    New phenotypes traits showed by this
    children as a result of mutation
    GENE MUTATION
     Change in the sequence of nucleotide
    bases of the DNA.
     The mRNA molecule transcribed from that
    mutated gene will copy the mistake
    leading to alteration of nucleotide bases.
     Cause errors in the protein produced
    which might greatly affect the function of
    the protein.
     Point mutation vs frameshift mutation.
    7.2 Gene mutation

    Classification of gene mutation

    BASE SUBSTITUTION

    one or a few base pairs in the nucleotide


    sequences in genes is substitute

    BASE INSERTION

    addition of 1 or a few base pairs in the


    nucleotide sequences in genes
    7.2 Gene mutation

    BASE DELETION

    loss of 1 or a few base pairs in nucleotide


    sequences

    BASE INVERSION

    2 base pairs or more are inverted in nucleotide


    sequence
    Point/gene mutation
    A T
    Normal
    G C
    C G
    T A
    T A
    A T
    Insertion Substitution Deletion Inversion
    A T A T
    A T A T
    G C G C
    G C G C
    C G T A
    C G C G
    G C C G
    G C T A
    T A T A
    T A A T
    T A A T
    A T
    A T
    BASE SUBSTITUTION

     one or a few base pairs in the nucleotide


    sequences in genes is replaced with another
    base pairs.

     Can cause changes in base sequence –


    results in changes of codon . E.g: (UAU
    change to UGU)

     1 codon = 3 base/ nucleic acid (coding for 1


    amino acid)
    Changes in codon:

    Missense mutation nonsense mutation

     Leads to amino acid changes  Changes a codon to stop


    The altered codon codes for codon (UAG / UAA / UGA )
    different amino acid  Leading to a nonfunctional
    protein
    BASE SUBSTITUTION

    Before mutation CAC-AAG-UAU-CAC-UAA


    his lys tyr his stop

    Missense mutation CAC-AAG-UGU-CAC-UAA


    his lys cys his stop

    Nonsense mutation CAC-AAG-UAG


    his lys stop
    Some substitutions are called silent
    mutations because they have no effect on
    the encoded protein.

    Means that a change in a base pair may


    transform one codon into another that
    translated into the same amino acid.

    Happens because of redundancy in the


    genetic code.
    Sickle – cell anaemia

    Normal RBC are


    compact & flexible,
    enabling them to
    squeeze through
    small capillaries.

    Sickle RBC are


    stiff and angular,
    causing them to
    become stuck in
    small capillaries.
    BASE INSERTION AS FRAMESHIFT
    MUTATION

    • An extra nucleotide base pair is inserted into the DNA


    nucleotide sequence of a gene

    • This causes the whole base sequence (after the point of


    mutation) to be shifted & every single triplet code is altered

    • This is the frameshift mutation (where the resulting


    polypeptide consists of an entirely new sequence of amino
    acids)
    EXAMPLE OF BASE INSERTION

    Normal code: GAG-GUU-CCU-AAA-CCU


    glu val pro lys pro
    Insertion : GAG-GUU-CCU-GAA-ACC
    glu val pro glu thr

    Insertion of improperly group


    base G into codons
    BASE DELETION AS FRAMESHIFT
    MUTATION

    • A nucleotide base pair is deleted from the DNA


    nucleotide sequence of a gene

    • This also causes the frameshift mutation (which effect is


    very serious)

    • Eg. of disorder due to base deletion is thalasemia


    - deletion of nucleotide base pairs for genes which
    control the production of Hb α and β chains
    - major thalassemia causes serious anaemia
    EXAMPLE OF BASE DELETION

     Normal code: GAG-GUU-CCU-AAA-CCU


    glu val pro lys pro
     Deletion : GAG-UUC-CUA-AAC-CUA
    glu ser leu asn leu

    improperly group into


    Deletion of codons
    base G
    BASE INVERSION

    2 base pairs or more in nucleotide sequence are


    inverted
    Change the codons => changes in amino acid
    Usually the effect is minor phenotype
    abnormality
    Effect may not be as severe as frameshift
    mutation
    EXAMPLE OF BASE INVERSION

    Normal code : AGA-GTC-TTC


    ser glu lys

    Base inversion: AGA-TGC-TTC


    ser thr lys

    Inversion of base G
    and T Change amino acid
    CHROMOSOME MUTATION
     Due to change in the chromosome number
    or chromosome structure (chromosome
    aberration).
     Change in chromosome structure
    (chromosomal aberration):
    - inversion
    - translocation
    - deletion
    - duplication
    Changes in chromosome structure
    C
     4 types of mutation Original
    H
    chromosome R
    O
    1. Deletion- loss of part of Deletion M
    chromosome O
    S
    O
    Duplication
    2. Duplication- extra copy made of M
    part of chromosome E

    Inversion M
    3. Inversion- reverse direction of U
    T
    part of chromosome
    A
    Translocation T
    4. Translocation- part of one I
    O
    attaches to another chromosome N
    Inversion
     Chromosome
    segment excises
    and reintegrates
    oriented 1800 from
    the original
    orientation.
     E.g. acute myeloid
    leukemia
    Translocation
     A section of a
    chromosome
    break off and then
    attached to
    another part of the
    same / different
    chromosome.
     E.g. down
    syndrome
    Deletion
     Loss of a
    chromosome
    segment, either from
    the ends or internally.
     Cause hemizygous
    condition on the
    homologue.
     E.g. Cri-du-chat
    syndrome.
    Duplication
     A chromosome
    segment being
    repeated in the same
    chromosome.
     Producing extra alleles
    for a trait.
     E.g. Charcot-Marie-
    Tooth disease type 1A.
    CHROMOSOMAL
    NUMBER ALTERATION

    ANEUPLOIDY EUPLOIDY/POLYPLOIDY

     addition or deletion of one  having an exact multiple of the


    or more chromosomes haploid number (n) of chromosomes.
    from the complete set (e.g. 3n, 4n, 5n…)
    CHROMOSOMAL
    NUMBER ALTERATION

    • ‘Change in number for a certain type of chromosome


    or for the whole set of chromosomes ’

    • Usually occurs due to non-disjunction during meiosis


    I or II which produce gametes with abnormal
    number of chromosomes
    NON DISJUNCTION

    • Non-disjunction in • Non-disjunction in
    meiosis I: meiosis II:
    homologous chromosome sister chromatid fail to
    pair fail to segregate separate during
    during anaphase I anaphase II
    Example of non disjunction occur during meiosis 1

    MEIOSIS I
    Non disjunction Normal

    MEIOSIS II

    Normal Normal Normal Non disjunction


    Non disjunction involving autosomes and
    sex chromosome

    • Abnormalities in the autosome number


    • Non disjunction on chromosome 21 (Trisomy:
    Down’s Syndrome)

    • Abnormalities in the sex chromosome number


    • Non disjunction during spermatogenesis
    • Non disjunction during oogenesis
    Non disjunction involving sex chromosome

    a) Non disjunction during

    • If non disjunction during meiosis I & II


    – sperm will have the abnormal sex chromosome :
    XY, XX @ YY

    • Abnormal sperm x Normal ovum (X)


    – Klinefelter syndrome (XXY)
    – Super male syndrome (XYY)
    – 3X female (Triple X syndrome, XXX)
    B) NON DISJUNCTION DURING
    OOGENESIS
    • If non disjunction happened
    – Some ovum might not carry any
    chromosome X & some others might carry
    2 chromosome X (XX)

    • Abnormal ovum (O) x sperm


    – Turner syndrome (XO)
    – YO : dead

    • Abnormal ovum (XX) x sperm


    – Klinefelter syndrome (XXY)
    – 3X female (Triple X syndrome)
    Karyotyping of chromosome for
    normal human

    autosome

    Sex
    chromosome
    KARYOTYPE OF DOWN SYNDROME
    Karyotyping for Klinefelter Syndrome
    Karyotyping for Turner syndrome
    Euploidy

     Entire set of chromosomes of a biological cell or


    organism is duplicated once or several times (2n, 3n,
    4n, …..)
     Common in plants than in animals
     Gametes fusion will produce cell @ organism which
    have more than 2 set of chromosome
     Cell or organism with 3 or more chromosome set
    are polyploidy
    POLYPLOIDY

     Organism with multiples of the haploid


    number of chromosome ( 3n, 4n, 5n,
    ………)

     Many plants important for agriculture


    are the products of polyploidy.

     For example, oats, cotton, potatoes,


    tobacco, and wheat are polyploid.
    Polyploidy

    Autopolyploidy Allopolyploidy
    POLYPLOIDY

     Autopolyploidy :
     Increase in number of chromosomes
    within the same species
     The chromosomes set are homologous
    with the parent cell
     Allopolyploidy :
     Multiplication of the number of
    chromosomes in a hybrid from parents
    of different species.
     produces fertile hybrids
    AUTOPOLYPLOIDY
     A type of polyploidy species that resulting
    from one species doubling its chromosome
    number to become tetraploid or more than
    two chromosome sets.
     An error during meiosis or mitosis in a germ
    (reproductive) cell line results in gametes in
    which the chromosomes is not reduced from
    the number of chromosomes in the parent cell
    Allopolyploidy
     A type of polyploidy species resulting from
    different species interbreeding and combining
    their chromosomes to become more than two
    chromosome sets.
    Allopolyploidy
     Origin Hybridisation
    - Two different species interbreed and combine their
    chromosomes produce sterile organism / hybrid
    with extra (abnormal) sets of chromosome.
    EXAMPLE:

    A B
    Spartina maritima x spartina alterniflora
    2n= 56 2n=70
    n=28 n= 35

    AB
    Sterile hybrid of AB (n+n)
    =63 (sterile)

    Doubling chromosome

    Spartina townsendi (AABB)


    (4n=126)
    THANK YOU

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