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  • 20 Biology 1-30-08 Mutations

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    Jawad Amin
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    This document discusses various types of genetic mutations, including: - Point mutations such as base pair substitutions that can cause missense or nonsense mutations, altering amino acids or resulting in a stop codon. Base pair insertions or deletions can cause frameshift mutations. - Chromosomal abnormalities like deletions, translocations, duplications, and inversions that involve breaking or rearrangement of chromosomes. - Aneuploidy or changes in chromosome number, as seen in Down syndrome which involves an extra copy of chromosome 21. The document then outlines how different mutations can be demonstrated, such as the base pair substitution that causes sickle cell anemia, and how triplet repeats and deletions can alter the

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    This document discusses various types of genetic mutations, including: - Point mutations such as base pair substitutions that can cause missense or nonsense mutations, altering amino acids or resulting in a stop codon. Base pair insertions or deletions can cause frameshift mutations. - Chromosomal abnormalities like deletions, translocations, duplications, and inversions that involve breaking or rearrangement of chromosomes. - Aneuploidy or changes in chromosome number, as seen in Down syndrome which involves an extra copy of chromosome 21. The document then outlines how different mutations can be demonstrated, such as the base pair substitution that causes sickle cell anemia, and how triplet repeats and deletions can alter the

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    12 views31 pages

    20 Biology 1-30-08 Mutations

    Uploaded by

    Jawad Amin
    This document discusses various types of genetic mutations, including: - Point mutations such as base pair substitutions that can cause missense or nonsense mutations, altering amino acids or resulting in a stop codon. Base pair insertions or deletions can cause frameshift mutations. - Chromosomal abnormalities like deletions, translocations, duplications, and inversions that involve breaking or rearrangement of chromosomes. - Aneuploidy or changes in chromosome number, as seen in Down syndrome which involves an extra copy of chromosome 21. The document then outlines how different mutations can be demonstrated, such as the base pair substitution that causes sickle cell anemia, and how triplet repeats and deletions can alter the

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as PPT, PDF, TXT or read online from Scribd
    Flag for inappropriate content
    Download as ppt, pdf, or txt
    of 31

    Transcription, Translation Review

    Mutations and Genetic Modifications

    Engage: One Wrong Letter

    Explore: What about Mistakes??


    Mutation

    Any genetic material changes to a cell

    Modified Designer Babies

    Types of Mutations

    Point Mutations

    Base Pair Substitutions


    Silent Missense new protein (Amino Acid Substitutions) Nonsense stop codon Triplet Repeats Frameshift Mutations

    Base Pair Insertions and deletions


    Variation in Chromosome Number Chromosome Abnormalities


    Deletions Translocations Duplications Inversions

    Mutations: genetic material changes in a cell

    Point mutations. Changes in 1 or a few base pairs in a single gene

    Base-pair substitutions: silent mutations no effect on protein missense to a different amino acid (different protein) nonsense to a stop codon and a nonfunctional protein Base-pair insertions or deletions: additions or losses of nucleotide pairs in a gene; alters the reading frame of triplets~frameshift mutation

    Mutagens: physical and chemical agents that change DNA

    Point Mutations

    Base-Pair Substitution Ex) Missense Mutation

    One Amino Acid Substituted for Another Sickle Cell Anemia

    Valine is replaced with Glutamic Acid

    Sickle Cell Anemia

    Base Pair Insertions Triplet Repeats

    Occurs when DNA is not copied correctly and a segment is repeated Ex) Huntington DiseaseCAG Repeat

    Deletion Shifts Reading Frame

    A deletion of one or more bases on a section of the chromosome.

    Variation in Chromosome Number

    Having any number of chromosomes that does not equal 23 pairs. Ex) Down Syndrome 3 Chromosome 21s

    Chromosome Abnormalities

    Translocations
    When one piece of a chromosome breaks off and attaches to another chromosome

    Duplications

    Occurs during crossing over and one chromosome ends up with more genes than it received.

    Inversions

    A reversal in the order of a segment of a chromosome

    Heredity, Mutations, and Inheritable Diseases

    Elaboration

    The next several slides will show different types of mutations. Name each of the following mutations.

    What Type of Mutation?

    Elaboration 2

    The next several slides will give you information concerning a particular mutation. On your paper describe the overall affect this mutation may cause..

    Elaboration 2

    You will watch the movie Lorenzos Oil and complete the film guide questions. This film will review several concepts we have already covered and will introduce several new concepts to be learned.

    Genetic Modification Where can it lead?

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