Science form 4 Mutation

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    Do you ever see someone who

    downs syndromeout

    there?

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    Why do these happen to them?

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    3.4 MUTATION

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    Learning outcomesAt the end of the lesson, you are able to

    1. State what mutation is

    2. State the types of mutation

    3. List examples of mutation

    4. Identify the causes of mutation

    5. State the advantages anddisadvantages of mutation

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    Mutation: the spontaneous

    change to the structure of genes orchromosomes / genetic information.

    Occurs in

    Somatic/body cells

    (can be passed downthrough mitosis)

    Gametes/reproductivecells

    (inherited)

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    TYPES OF MUTATION

    Gene mutation

    Change in the

    structureofDNA

    Chromosome mutation

    A change in the

    numberand thestructureof

    chromosomes.

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    Downs syndrome: an extra chromosome in

    autosome 21 (47 chromosomes)

    Klinefelters syndrome: a male with extra X

    chromosome (XXY)

    Turners syndrome: a female with one less Xchromosome (XO)

    Polyploidy: having one or more chromosomes ina set of chromosome

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    Colour blindness: a mutated gene in theXchromosome

    Sickle cell anemia: mutation in gene that

    produces haemoglobin; inefficient in transportingoxygen in the blood

    Albinism:the gene for skin colouris mutated;

    unable to produce black pigment (melanin)

    Haemophilia: mutation in gene that is importantfor blood-clotting

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    Downs syndrome

    Additional or EXTRA

    chromosome at autosome 21.(47 Chromosomes)

    Physical retardation

    Thick neckSlanted eyes

    Protuding tongue

    Reduced resistance to diseases

    Need Special Care.

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    Klinefelters syndrome

    A male with extra X chromosomes

    (having XXY)

    Infertile

    Underdeveloped testes

    Narrow shoulder

    Some female characteristics

    Enlarged breasts

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    Turners syndromeA female having one less X

    chromosome (XO)Infertile

    Short

    Mentally retardedHas no ovaries

    Small breasts

    Folded skin on neck

    No menstrual cycle

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    Polyploidy

    The number of chromosomes is increased by one

    or more sets. More common in plants.

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    Colour blindness

    Mutant gene (recessive gene) on the Xchromosome.

    Not able to differentiate colours

    especiallygreen and red

    More common in

    males because male has onlyone X chromosome

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    Albinism

    The gene for skin colour is mutated

    (recessive gene)

    Unable to produce melanin (black

    pigment)

    White hair

    Pink eyes and pinkish skin

    Skin is sensitive to sunlight

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    Sickle-cell anemia

    Mutation in gene that produce

    haemoglobin

    Sickle-cell shaped of red blood cells

    Not efficient in transporting oxygen

    Facing painful crises such as chest pain,

    bone pain,Yellowing of eyes

    Inherited from both parents

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    Haemophilia

    Mutation in chromosome X (for blood

    clotting)

    Have problem in blood clotting

    May bleed continuously or for a longer

    period

    A woman carrier may inherit thedisease to a son

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    Spontaneous changes

    during cell division

    Exposure to physicalmutagens: UV radiation,

    X-rays, radioactiveradiation

    Environmental change: thechange of temperature for along period causes genetic

    evolution in organism

    Exposure to chemicalmutagens: Benzene,

    formaldehyde, nicotine,sodium nitrite, pesticides

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    Give rise to variationwhich leads todifferences in traits

    Better chance of

    survival when newspecies are moreresistant to diseases

    Advantages

    Cause physical

    defects/deformities

    Causes geneticdiseases

    Some chromosome

    mutations and genemutation are lethal(fatal)

    Causes mental

    defects

    Disadvantages

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    QUIZPlease take a pieceof paper and write

    your answersclearly.

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    1. State the sex chromosomes for

    i) male

    ii) female 2. State 1 advantage and 1 disadvantage of

    mutations.

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