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    Mutation

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    Jennifer Valdez
    1. Mutations originate at the DNA level but show their effects at the protein level. 2. Mutations can be classified by their effects on DNA or protein. At the DNA level they include point mutations and frameshift mutations, while at the protein level they include missense and nonsense mutations. 3. Gene mutations are classified as base substitutions, insertions, or deletions. Chromosome mutations involve changes in structure like deletions, duplications, inversions, or translocations, or changes in chromosome number like non-disjunction.

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    Mutation

    Uploaded by

    Jennifer Valdez
    83 views11 pages
    1. Mutations originate at the DNA level but show their effects at the protein level. 2. Mutations can be classified by their effects on DNA or protein. At the DNA level they include point mutations and frameshift mutations, while at the protein level they include missense and nonsense mutations. 3. Gene mutations are classified as base substitutions, insertions, or deletions. Chromosome mutations involve changes in structure like deletions, duplications, inversions, or translocations, or changes in chromosome number like non-disjunction.

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    443047396 Mutation Pptx

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    1. Mutations originate at the DNA level but show their effects at the protein level. 2. Mutations can be classified by their effects on DNA or protein. At the DNA level they include point mutations and frameshift mutations, while at the protein level they include missense and nonsense mutations. 3. Gene mutations are classified as base substitutions, insertions, or deletions. Chromosome mutations involve changes in structure like deletions, duplications, inversions, or translocations, or changes in chromosome number like non-disjunction.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    83 views11 pages

    Mutation

    Uploaded by

    Jennifer Valdez
    1. Mutations originate at the DNA level but show their effects at the protein level. 2. Mutations can be classified by their effects on DNA or protein. At the DNA level they include point mutations and frameshift mutations, while at the protein level they include missense and nonsense mutations. 3. Gene mutations are classified as base substitutions, insertions, or deletions. Chromosome mutations involve changes in structure like deletions, duplications, inversions, or translocations, or changes in chromosome number like non-disjunction.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 11

    3’-WUT ATI ONS-5’

    5’-MUTATIONS-3’

    21^3
    XO
    XXY
    • @LAYSOGUI
    MUTATION

    • Process that produces alteration in DNA or


    chromosome structure
    • It is also a failure to store the genetic information
    faithfully
    • It includes both chromosomal changes collectively
    known as chromosome aberration or changes
    within a single genes called GENE MUTATIONS
    CLASSIFICATION OF MUTATIONS
    • 1. Spontaneous Mutations
    • Those that just happen in nature; no specific agents associated with its
    occurrence and generally assumed to be random changes in the nucleotide
    sequences of genes; linked to normal chemical processes in the organism that
    alter the structure of the nitrogenous bases especially during DNA replication.

    • 2. Induced Mutations
    • Those that result from the influence of any artificial factor i.e. radiation from
    cosmic and mineral sources, UV exposure from the sun and other chemical
    agents.
    Molecular Basis of Mutation
    • Gene is a linear sequence of three nucleotide pairs representing stored chemical information
    • Genetic code is a triplet and each sequence of 3 nucleotides specifies a single amino acid
    • Any change that disrupts these sequences or the coded information provides sufficient basis for
    mutation

    1. Base Substitutions or Point mutations: TRANSITION (A-G, T-C) vs TRANSVERSION (A-T, C-G)
    2. Frameshift mutations
    Example: THE CAT SAW THE DOG
    Change of one letter Loss of one letter Gain of one letter
    SUBSTITUTION DELETION INSERTION
    THE BAT SAW THE DOG THE ATS AWT HED OG THE CMA TSA EDO G
    THE CAT SAW THE HOG loss of C insertion of M
    THE CAT SAT THE DOG

    POINT MUTATION FRAMESHIFT MUTATION FRAMESHIFT MUTATION


    NONSENSE MUTATIONS vs MISSENSE MUTATIONS

    Is any genetic mutation that leads to the RNA


    sequence becoming a stop codon instead.
    Is a genetic mutation that changes amino acid to another.

    DNA RNA PROTEIN DNA RNA PROTEIN


    ACA  UGU  Cysteine ACA  UGU  Cysteine

    ACT  UGA  Stop ACC  UGG  Tryptophan

    Nonsense mutations probably affect the resulting protein a lot more than missense
    mutations do. Since that new STOP codon that we’re creating could dropped off a huge
    section of a protein instead of just changing one amino acid to another.
    CATEGORIES MISSENSE MUTATIONS
    • SILENT MUTATIONS-do not actually affect the proteins at all since many
    different RNA codons could code for the same amino acid
    i.e. CCA, CCG, CCT, CCC Glycine

    • CONSERVATIVE MUTATIONS- it is when the new amino acid is on the same type
    as the original
    i.e. Glutamic acid  Aspartic acid

    • NON-CONSERVATIVE MUTATION- when the mutation resulted to the different


    type of amino acid from the original
    i.e. Serine  Phenylalanine
    small polar AA large nonpolar amino acid
    SICKLE CELL: Point mutation, non-
    conservative

    Glu  Val
    SUMMARY

    • 1. MUTATIONS ORIGINATE AT THE DNA LEVEL, BUT SHOW


    THEIR EFFECTS AT THE PROTEIN LEVEL.

    • 2. MUTATIONS CAN BE CLASSIFIED BY EITHER THEIR


    EFFECTS ON DNA OR ON PROTEIN.
    DNA Point and Frameshit
    PROTEIN Missense and Nonsense
    SUMMARY
    ❑ GENE MUTATIONS (POINT MUTATIONS)
    1. Base substitutions
    2. Base insertions
    3. Base Deletions
    ❑ CHROMOSOME MUTATIONS
    ❖ Changes in chromosome structure
    1. Chromosomal deletion: when a section of a chromosome is missing
    2. Chromosomal duplication: when a section of a chromosome is repeated
    3.Chromosomal Inversion: when a section of a chromosome is inverted
    4. Chromosomal Translocation: when a section of a chromosome breaks off and
    reattaches to another non-homologous chromosome
    ❖ Changes in chromosome number
    1. Non-disjunction: Trisomy 21, XXY, XO, XXX, XYY
    KARYOTYPING
    • One of the techniques that allows us to diagnose several thousand possible genetic diseases
    in humans.
    • Refers to the use of microscope to examine the size, shape and number of chromosomes in
    a sample of body cells.
    • KARYOTYPE is the number and visual appearance of the chromosomes in the nucleus of a
    cell

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