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    Mutations

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    ana madrigal

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    © All Rights Reserved
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    Mutations

    Uploaded by

    ana madrigal
    5 views2 pages

    Copyright

    © © All Rights Reserved

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    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
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    5 views2 pages

    Mutations

    Uploaded by

    ana madrigal

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 2

    MUTATION GENE

    A change in the DNA sequence.


    A unit of heredity that is transferred from
    Types:
    parent to offspring and determines some
    Point mutation
    characteristic of the offspring.
    Frameshift mutation
    Structure:
    1 Insertion
    Deletion
    Substitution
    2 DNA sequence
    Exons
    Introns
    Causes:
    Function:
    Spontaneous mutations
    Codes for proteins
    Environmental factors (radiation,
    Regulatory functions
    chemicals)
    Non-coding RNAs
    Errors in DNA replication

    MUTATION

    CHROMOSOME GENOME
    The complete set of genetic material present
    A thread-like structure composed of DNA
    in an organism.
    and proteins found in the nucleus of
    Types:
    eukaryotic cells.
    Nuclear genome
    Types:
    Mitochondrial genome

    3 4
    Autosomal chromosomes
    Structure:
    Sex chromosomes
    DNA
    Structure:
    Genes
    Telomeres
    Function:
    Centromere
    Contains all hereditary information
    Function:
    Determines traits and characteristics
    Carries genetic information
    Influences development and function
    Facilitates cell division (mitosis,
    of an organism
    meiosis)
    DOWN SYNDROME
    DOWN SYNDROME, ALSO KNOWN AS TRISOMY 21, IS A GENETIC DISORDER CAUSED BY THE PRESENCE OF ALL OR PART OF A THIRD COPY OF
    CHROMOSOME 21. THIS ADDITIONAL GENETIC MATERIAL ALTERS THE COURSE OF DEVELOPMENT AND CAUSES THE CHARACTERISTIC FEATURES
    ASSOCIATED WITH DOWN SYNDROME.

    GENE LEVEL CHROMOSOME GENOME LEVEL


    LEVEL
    THE PRESENCE OF AN EXTRA COPY
    OF CHROMOSOME 21 CAN DISRUPT
    THE EXPRESSION OF GENES DOWN SYNDROME IS THE PRESENCE OF AN ADDITIONAL
    LOCATED ON THIS CHROMOSOME. CHARACTERIZED BY THE PRESENCE CHROMOSOME 21 AFFECTS THE
    ONE GENE ON CHROMOSOME 21 THAT OF AN EXTRA COPY OF ENTIRE GENOME OF INDIVIDUALS
    IS OVEREXPRESSED IN INDIVIDUALS CHROMOSOME 21, RESULTING IN A WITH DOWN SYNDROME.
    WITH DOWN SYNDROME IS THE TOTAL OF THREE COPIES INSTEAD OF THIS DISRUPTS THE REGULATION OF
    AMYLOID PRECURSOR PROTEIN THE USUAL TWO. GENE EXPRESSION AND ALTERS
    (APP) GENE, WHICH CONTRIBUTES TO THIS EXTRA CHROMOSOME DISRUPTS VARIOUS BIOLOGICAL PROCESSES,
    THE CHARACTERISTIC AMYLOID THE NORMAL BALANCE OF GENETIC LEADING TO CHARACTERISTIC
    PLAQUES FOUND IN THE BRAINS OF MATERIAL IN CELLS, LEADING TO PHYSICAL FEATURES,
    INDIVIDUALS WITH DOWN SYNDROME DEVELOPMENTAL ABNORMALITIES DEVELOPMENTAL DELAYS, AND
    AND IS ASSOCIATED WITH EARLY AND HEALTH ISSUES. HEALTH COMPLICATIONS.
    ONSET ALZHEIMER'S DISEASE.

    EFFECTS:
    PHYSICAL FEATURES: INDIVIDUALS WITH DOWN SYNDROME TYPICALLY EXHIBIT CHARACTERISTIC PHYSICAL FEATURES SUCH AS ALMOND-
    SHAPED EYES, A FLAT NASAL BRIDGE, A SMALL MOUTH, AND LOW MUSCLE TONE.
    DEVELOPMENTAL DELAYS: DOWN SYNDROME IS ASSOCIATED WITH DEVELOPMENTAL DELAYS, INCLUDING DELAYS IN MOTOR SKILLS,
    LANGUAGE DEVELOPMENT, AND COGNITIVE ABILITIES.
    HEALTH COMPLICATIONS: INDIVIDUALS WITH DOWN SYNDROME HAVE AN INCREASED RISK OF VARIOUS HEALTH ISSUES, INCLUDING
    CONGENITAL HEART DEFECTS, GASTROINTESTINAL PROBLEMS, HEARING LOSS, VISION PROBLEMS, AND THYROID DISORDERS.
    COGNITIVE IMPAIRMENT: MOST INDIVIDUALS WITH DOWN SYNDROME HAVE MILD TO MODERATE INTELLECTUAL DISABILITY, WHICH CAN
    AFFECT THEIR LEARNING ABILITIES AND ADAPTIVE FUNCTIONING.

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