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    Mutations Genetic Disorders

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    Joshua Vidal
    The document discusses several types of genetic mutations including point mutations, chromosomal mutations, and discusses how these can lead to genetic disorders. It provides examples of several common genetic disorders caused by chromosomal abnormalities like Down syndrome, sex chromosome disorders like Klinefelter syndrome, and single gene disorders like cystic fibrosis. The document explores the genetic basis and characteristics of each of these conditions.

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    Download as PPT, PDF, TXT or read online from Scribd

    Mutations Genetic Disorders

    Uploaded by

    Joshua Vidal
    28 views28 pages
    The document discusses several types of genetic mutations including point mutations, chromosomal mutations, and discusses how these can lead to genetic disorders. It provides examples of several common genetic disorders caused by chromosomal abnormalities like Down syndrome, sex chromosome disorders like Klinefelter syndrome, and single gene disorders like cystic fibrosis. The document explores the genetic basis and characteristics of each of these conditions.

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    Mutations Genetic Disorders Joshua Vidal

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    The document discusses several types of genetic mutations including point mutations, chromosomal mutations, and discusses how these can lead to genetic disorders. It provides examples of several common genetic disorders caused by chromosomal abnormalities like Down syndrome, sex chromosome disorders like Klinefelter syndrome, and single gene disorders like cystic fibrosis. The document explores the genetic basis and characteristics of each of these conditions.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    28 views28 pages

    Mutations Genetic Disorders

    Uploaded by

    Joshua Vidal
    The document discusses several types of genetic mutations including point mutations, chromosomal mutations, and discusses how these can lead to genetic disorders. It provides examples of several common genetic disorders caused by chromosomal abnormalities like Down syndrome, sex chromosome disorders like Klinefelter syndrome, and single gene disorders like cystic fibrosis. The document explores the genetic basis and characteristics of each of these conditions.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    of 28

    Mutations &

    Genetic Disorders
    With Sir Joshua Vidal
    In his Biology class
    GOOD MORNING!
    PRAYER
    ATTENDANCE
    RECAP
    Tell me
    OJECTIVES
    1.Distinguish between autosomes
    and sex chromosomes;
    2.Explain how human reproduce an
    offspring; and
    3.Appreciate the roles of Cell
    Division in human metamorphosis.
    Mutations
    Mutation:
     Any mistake or change in the DNA sequence

    Point mutation:
     Change in
    one nitrogen
    base in DNA
     Ex: albinism
    Chromosomal Mutation:
     Changes in
    chromosome structure
    1) INVERSION:
     the order of genes on a
    chromosome is inverted

    2) TRANSLOCATION:
    •themovement of a
    chromosome fragment to
    a nonhomologus
    chromosome
    3. DELETION
     Loss of a few bases
     Loss of large regions
    of a chromosome

    4. DUPLICATION
     Duplication of a few
    bases
     Duplication of large
    regions of a
    chromosome
    Crossing Over
     Occurs
    when
    chromosomes
    exchange genes.

    2 chromosomes
    overlap.
     Some genes
    cross over and
    switch places
    NONDISJUNCTION
    Nondisjunction:
     chromosome pair fails
    to separate properly
    during meiosis
    Monosomy:
     gamete has 1 less
    chromosome than it
    should
     45 chromosomes
    is the result
     Ex: Turner syndrome
     Missing a sex
    chromosome
    Trisomy:
    Gamete has 1
    more chromosome
    than it should
    Result is 47
    chromosomes
    Ex: Down’s
    Syndrome
    Extra#21
    chromosome
    Methods of Detection
    Chorion villi sampling:
    •Take sample of the chorion
    –(membrane surrounding
    fetus)
    •Chemical tests and Karyotyping performed

    Ultrasound:
     Sound waves are used to
    generate an image of the
    unborn child.
     Used to detect abnormalities of limbs, organs, etc.
    Amniocentesis:
    • Fluid surrounding the fetus is drawn out by
    needle
    • Fetal cells are collected and grown in a lab.
    • Chromosomes can be then Karyotyped
    Autosomal Disorders
     Down’s Syndrome (Trisomy 21)

     Patau’s Syndrome (Trisomy 13)

     Edward’s Syndrome (Trisomy 18)


    Down’s Syndrome (DS)
     Excess # 21 chromosome
     Prenatal testing can be done
     Result of chromosomal mutation
     1 in 900 people born with this
     Likelihood of having a child with DS
    increases with advancing maternal age
     Symptoms: mental retardation, upward
    slant to eyes, small mouth, abnormal ear
    shape, decreased muscle tone
     No cure
    Patau’s Syndrome &
    Edward’s Syndrome
     Cardiac abnormalities
     Very severe conditions
     Most affected infants
    die during first few
    weeks of life
    Deletion Disorders
     Angelman Syndrome

     Prader-Willi Syndrome
    Angelman Syndrome
     Inappropriate
    laughter with
    convulsions
     Poor
    coordination
     Mental
    retardation
    Prader-Willi Syndrome

    Extremely floppy
    Obesity (constantly
    hungry)
    Mild mental
    retardation
    Sex Chromosome Disorders
     Klinefelter’s Syndrome

     Turner’s Syndrome

     Fragile X Syndrome
    Klinefelter’s Syndrome
     47, XXY
     1 in 1000 male live births
     Mild learning difficulties
     Taller than average with
    long lower limbs
     Show mild enlargement of
    breasts
     Infertile (absence of
    sperm)
     Treat with testosterone
    Turner’s Syndrome

     45, X
     Low incidence
     Look normal
     Ovarian failure
     Normal intelligence
     Short stature
     Estrogen therapy
    Fragile X Syndrome
     Most common inherited
    cause of mental
    retardation
     1 in 2000 males
     High forehead,
    prominent jaw, autism
     Gap in X chromosome
    Single Gene Disorders
     Cystic Fibrosis

     Hemophilia

     Sickle Cell Anemia

     Phenylketonuria
    Cystic Fibrosis (CF)
     Recessive disorder
     Mutation stops production of
    protein in lung cells,
    pancreas
     Thick mucus, bacterial
    infections in lung
     “sweat test”
     Most common in
    Caucasians (1 in 3300)
     Chest percussions, diet
    supplements
     Shortened life expectancy
    Hemophilia

     Sex-linked
     Failure of blood to clot
     Rare in females
     Injections with clotting factors to stop
    bleeding episodes
     $350,000 a year in treatment
    Sickle Cell Anemia
     Mutation in blood protein
     “sickle” shape to RBC
     Screening tests
     Most common in African-Americans
    (1 in 375)
     Pain associated with blocked vessels, causes
    anemia (fatigue)
     Common where
    mosquito-borne
    malaria is present
    PKU
     Mutation disrupts function of enzyme
     Leads to high phenylalanine levels in brain
    (poisons)
     Mental retardation, epilepsy
     Screening newborns (heel prick)
     1 in 10,000 Caucasian births
     Extremely rare in African-Americans
     Look normal
     Need low-protein diet,
    smelly formulas
    Instruction: You will be making a poster with
    infographic that tells about the equality
    of traits to the people bearing genetic
    disorders by aligning your works to the
    theme: We are Human as You

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