Dna and mutations
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DNA and Mutations . Mutation Facts #1-5 . Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video 3 – Repair Addition and Deletion Mutations. What is a Mutation? . change in the DNA code

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DNA and Mutations

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Dna and mutations

DNA and Mutations


Mutation facts 1 5

Mutation Facts #1-5

  • Write down five facts about mutations as we go through the following videoclips

  • Video 1

  • Video 2 – Repair

  • Video 3 – Repair

  • Addition and Deletion Mutations


  • What is a mutation

    What is a Mutation?

    • change in the DNA code

    • Lead to frameshifts – the message is no longer correctly passed

    • Protein Outcomes:

    • 1. changed – different from the original

    • 2. no change - silent mutations

    • 3. incomplete - amino acid is changed to a "stop" codon


    3 types of mutations

    3 Types of Mutations:

    • 1. Substitution - one base for another

    • Sickle-cell Anemia

    • GAG into GUG

    • Valine becomes glutamic acid


    Dna and mutations

    • 2. Insertion - extra bases

    • Huntington's disease – CAG repeat

    • fragile X syndrome – CGG repeat


    Fragile x syndrome

    Fragile X syndrome

    • triplet CGG is repeated (CGGCGGCGGCGG, etc.).

    • repeats as few as 5 or as many as 50 will not cause harm. Even 100 repeats usually cause no harm.

    • longer repeats have a tendency to grow longer from one generation to the next (as many as 4000 repeats).


    Dna and mutations

    • 3. Deletion - a section of DNA is lost, or deleted.

    • DuchenneMuscular Dystrophy (DMD)

    • DMD gene codes for dystrophin (protein)

    • protein holds skeletal muscle cells together - missing in DMD


    Mutations lead to genetic disorders

    Mutations lead to Genetic Disorders

    • One Wrong Letter - Tay Sachs

    • Finding Cures is Hard - Cystic Fibrosis


    Chromosome disorders

    Chromosome Disorders

    • Chromosome: Coiled DNA and proteins


    Chromosome arrangement

    Chromosome Arrangement

    • Called a Karyotype

    • Receive one from mom, one from dad, they are homologs


    Dna and mutations

    Chromosome 21

    “Trisomy 21’

    Down Syndrome


    Kleinfelter s syndrome xxy

    Kleinfelter’s syndrome- XXY

    • Male

    • Develop some breast tissue

    • Little body hair

    • typically tall

    • Infertility results - no sperm


    Turner s syndrome x

    Turner’s Syndrome– X

    • No Y means Turner’s people are female.

    • no ovaries develop don’t undergo puberty and they are sterile.

    • Hormone treatment cures all but the sterility.

    • Other symptoms: short stature, webbed skin and low hairline at the neck


    Mutations good or bad

    Mutations – good or bad?

    • Discuss with your lab partner.


    Reflection

    Reflection

    • DNA codes for proteins. If DNA is mutated, how might this cause a disease? (Connect proteins to disease).

    • How is it possible for two identical twins, with identical DNA sequences, have different traits – for instance one gets cancer and one does not.


    What is epigenetics

    What is Epigenetics?

    • the study of changes in phenotype (appearance) or gene expression caused by mechanisms other than changes in the DNA


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