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    Mutations 1

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    Charlotte Anne Feliciano
    Mutations are changes to an organism's genetic material that can be caused by errors in DNA replication, transcription, radiation, viruses, and other factors. There are several types of mutations including point mutations, insertions, deletions, and substitutions. Genetic disorders are caused by abnormalities in an individual's genetic makeup and can result from chromosomal abnormalities. Examples of genetic disorders discussed in the document include cystic fibrosis, sickle cell anemia, Down syndrome, Edwards syndrome, Patau syndrome, Jacobsen syndrome, Klinefelter syndrome, and Turner syndrome.

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    Mutations 1

    Uploaded by

    Charlotte Anne Feliciano
    16 views32 pages
    Mutations are changes to an organism's genetic material that can be caused by errors in DNA replication, transcription, radiation, viruses, and other factors. There are several types of mutations including point mutations, insertions, deletions, and substitutions. Genetic disorders are caused by abnormalities in an individual's genetic makeup and can result from chromosomal abnormalities. Examples of genetic disorders discussed in the document include cystic fibrosis, sickle cell anemia, Down syndrome, Edwards syndrome, Patau syndrome, Jacobsen syndrome, Klinefelter syndrome, and Turner syndrome.

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    Mutations-1

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    Mutations are changes to an organism's genetic material that can be caused by errors in DNA replication, transcription, radiation, viruses, and other factors. There are several types of mutations including point mutations, insertions, deletions, and substitutions. Genetic disorders are caused by abnormalities in an individual's genetic makeup and can result from chromosomal abnormalities. Examples of genetic disorders discussed in the document include cystic fibrosis, sickle cell anemia, Down syndrome, Edwards syndrome, Patau syndrome, Jacobsen syndrome, Klinefelter syndrome, and Turner syndrome.

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    © All Rights Reserved
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    Download as pptx, pdf, or txt
    16 views32 pages

    Mutations 1

    Uploaded by

    Charlotte Anne Feliciano
    Mutations are changes to an organism's genetic material that can be caused by errors in DNA replication, transcription, radiation, viruses, and other factors. There are several types of mutations including point mutations, insertions, deletions, and substitutions. Genetic disorders are caused by abnormalities in an individual's genetic makeup and can result from chromosomal abnormalities. Examples of genetic disorders discussed in the document include cystic fibrosis, sickle cell anemia, Down syndrome, Edwards syndrome, Patau syndrome, Jacobsen syndrome, Klinefelter syndrome, and Turner syndrome.

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    of 32

    ALL ABOUT

    MUTATION
    Quarter 3 Module 5
    WHO IS YOUR
    FAVORITE
    SUPERHERO?
    MUTATIONS
    • Mutations are changes made to an
    organism's genetic material.
    • Changes may be due to errors in
    replication, errors during
    transcription, radiation, viruses,
    and many other things
    POINT MUTATIONS
    Large category of
    mutations that describe a
    change in a single
    nucleotide of DNA, that
    causes that DNA to be
    different from the normal
    type of gene sequence.
    INSERTION
    An extra base pair is added to
    a sequence of bases.
    INSERTION
    BETA-THALASSEMIA

    Blood disorder that


    reduces the production of
    hemoglobin
    DELETION
    An extra base pair is deleted
    from a sequence
    DELETION
    CYSTIC FIBROSIS
    • Hereditary disease that
    affects the lungs and
    digestive system.
    • The body produces thick
    and stick mucus that can
    clog the lungs and
    obstruct the pancreas.
    SUBSTITUTION
    Bases are swapped for
    different ones.
    SUBSTITUTION
    SICKLE CELL ANEMIA • One of a group of
    inherited disorders known
    as sickle cell disease.
    • It affects the shape of red
    blood cells, whch carry
    oxygen to all parts of the
    body.
    • The sickle cells die early,
    which causes a constant
    shortage of red blood
    cells.
    GENETIC DISORDERS
    GENETIC DISORDERS
    • Caused by an abnormality
    in the genetic makeup of
    an individual
    • Can be caused by a
    chromosomal abnormality
    CRI-DU-CHAT
    SYNDROME
    • Also known as 5p- (5p minus)
    syndrome, is a chromosomal
    condition that results when a
    piece of chromosome 5 is
    missing.
    • Affected individuals have distinctive facial
    features, including widely set eyes
    (hypertelorism), low-set ears, a small jaw, and
    a rounded face.
    CRI-DU-CHAT SYNDROME
    DOWN’S SYNDROME

    • Trisomy 21
    • Chromosomal condition that is
    associated with intellectual
    disability, a characteristic fiacial
    appearance, and weak muscle tone
    (hypotonia) in infancy.
    DOWN’S SYNDROME
    EDWARDS SYNROME

    • Trisomy 18
    • Chromosomal condition associated
    with abnormalities in many parts of
    the body. Individuals with trisomy
    18 often have slow growth before
    birth (intrauterine growth
    retardation) and a low birth weight.
    EDWARDS SYNROME
    PATAU SYNDROME

    • Trisomy 13
    • The extra genetic material disrupts
    normal development, causing
    multiple and complex organ
    defects.
    PATAU SYNDROME
    JACOBSEN SYNDROME

    • A condition caused by a loss of


    genetic material from chromosome
    11.
    • Affected individuals have delayed
    development, including the
    development of speech and motor
    skills (such as sitting, standing, and
    walking).
    PATAU SYNDROME
    KLINEFELTER
    SYNDROME
    • Results from the presence of one
    extra copy of the X chromosome in
    each cell (47,XXY). Extra copies of
    genes on the X chromosome
    interfere with male sexual
    development, often preventing the
    testes from functioning normally
    and reducing the levels of
    testosterone.
    KLINEFELTER
    SYNDROME
    TURNER SYNDROME

    • Results when one normal X


    chromosome is present in a
    female's cells and the other sex
    chromosome is missing or
    sctructurally altered. The missing
    genetic materials affect
    development before and after birth.
    TURNER SYNDROME

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