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    02 Types of Mutation

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    Ella Franklin
    This document discusses genetic mutations and how they introduce new alleles into a population. It defines five criteria for distinguishing between different types of mutations: 1) origin or cause, 2) amount of genetic material changed, 3) effect on DNA, 4) effect on phenotype, and 5) heritability. Point mutations involve a single base pair change, while chromosomal mutations move blocks of genes. Mutations can be substitutions, insertions, or deletions and can have varying effects on proteins and phenotypes, from harmful to neutral to beneficial. Somatic mutations occur in non-reproductive cells and are not inherited, while germline mutations can be passed to offspring.

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    02 Types of Mutation

    Uploaded by

    Ella Franklin
    43 views17 pages
    This document discusses genetic mutations and how they introduce new alleles into a population. It defines five criteria for distinguishing between different types of mutations: 1) origin or cause, 2) amount of genetic material changed, 3) effect on DNA, 4) effect on phenotype, and 5) heritability. Point mutations involve a single base pair change, while chromosomal mutations move blocks of genes. Mutations can be substitutions, insertions, or deletions and can have varying effects on proteins and phenotypes, from harmful to neutral to beneficial. Somatic mutations occur in non-reproductive cells and are not inherited, while germline mutations can be passed to offspring.

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    This document discusses genetic mutations and how they introduce new alleles into a population. It defines five criteria for distinguishing between different types of mutations: 1) origin or cause, 2) amount of genetic material changed, 3) effect on DNA, 4) effect on phenotype, and 5) heritability. Point mutations involve a single base pair change, while chromosomal mutations move blocks of genes. Mutations can be substitutions, insertions, or deletions and can have varying effects on proteins and phenotypes, from harmful to neutral to beneficial. Somatic mutations occur in non-reproductive cells and are not inherited, while germline mutations can be passed to offspring.

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    © All Rights Reserved
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    Download as pptx, pdf, or txt
    43 views17 pages

    02 Types of Mutation

    Uploaded by

    Ella Franklin
    This document discusses genetic mutations and how they introduce new alleles into a population. It defines five criteria for distinguishing between different types of mutations: 1) origin or cause, 2) amount of genetic material changed, 3) effect on DNA, 4) effect on phenotype, and 5) heritability. Point mutations involve a single base pair change, while chromosomal mutations move blocks of genes. Mutations can be substitutions, insertions, or deletions and can have varying effects on proteins and phenotypes, from harmful to neutral to beneficial. Somatic mutations occur in non-reproductive cells and are not inherited, while germline mutations can be passed to offspring.

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    of 17

    MODULE 6

    Genetic Change
    Inquiry Question 1
    How does mutation introduce
    new alleles into a population?
    Content:
    • Discuss the criteria that distinguish mutations​
    • Origin of mutation​
    • Amount of material changed​
    • Effect of the mutation​
    • Effect of the mutation on phenotype​
    • Heritability​
    • Define the term chromosomal mutation including
    deletion, insertion, inversion and translocation​
    • Explain the impacts of chromosomal mutations on the function of
    an organisms​
    Types of mutation
    Mutations
    • https://learn.genetics.utah.edu/content/basics/mutation/
    Criteria for Types of Mutations
    1. The origin (cause) of the mutation i.e. mutagen
    2. The amount of genetic material changed
    3. The effect of the mutation on DNA
    4. The effect of the mutation on phenotype
    5. Heritability of mutations
    Mutations
    Mutations can be distinguished (compared) according to 5 criteria:​

    1. Origin (Cause) of Mutation​


    • Spontaneous: random error in natural process such as replication​
    • Induced: caused by mutagen​
    Mutations
    • 2. Amount of Material Changed​
    • Point Mutation: changes to a single base pair and affects only a
    single gene​
    • Chromosomal Mutation: move whole blocks of genes to different
    parts of a chromosome  – affects lots of genes​
    Point Mutations
    • A point mutation is the
    change in a single
    nucleotide
    • Classified according to
    how they change the
    nucleotide sequence –
    substitution OR
    frameshift
    Mutations
    3. The Effect of the Mutation on DNA
    • A base may be substituted, inserted or deleted
    • Frameshift mutation – shifts the DNA sequence so
    the codons change

    Insertion – a new base is


    added so that the codons
    change

    Deletion – a base is
    Substitution – a base is removed so the codons
    exchanged for a different change
    base
    Mutations
    4. The Effect of the Mutation on Phenotype
    • mutations can be classified based on their effect
    on proteins/phenotype
    • variation can cause small or large changes
    • harmful (most common)
    • neutral (sometimes)
    • beneficial (rarely)
    Nonsense mutations – change an amino acid to a
    stop codon
    • Cuts the protein short
    • Resulting protein is usually non-functional and has
    a major phenotypic effect
    Missense mutations – point mutations that result in an
    amino acid change
    • Functionality of protein determined by change of amino
    acid
    same amino acid → same functionality
    different amino acid → may have different functionality
    eg sickle cell anaemia
    Silent mutations – changes in the DNA sequence that do
    not cause a change in amino acid
    Neutral mutations – changes in the DNA that result in an
    amino acid of the same type being formed
    • It is a mutation that is not beneficial or harmful to the
    organism
    • Does not affect the functioning of the protein
    Mutations
    5. Heritability
    • Somatic (non
    reproductive) cell
    mutation - not
    passed on
    • Germline (gamete)
    cell mutation - can
    be inherited by
    offspring
    Worksheets
    02 Types of Point Mutation
    02 Examples of single gene mutation

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