Mutations and Genetic Diseases - PowerPoint PPT Presentation

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Mutations and Genetic Diseases

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Properties of AA AA mRNA DNA Normal Hydrophilic/Acidic Glu GAG CTC Mutations and Genetic Diseases None (Silent) Hydrophilic/Acidic Glu GAA CTT None (Missense) – PowerPoint PPT presentation

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Title: Mutations and Genetic Diseases


1
Mutations and Genetic Diseases
DNA mRNA AA Properties of AA Affect
CTC GAG Glu Hydrophilic/Acidic Normal
CTT GAA Glu Hydrophilic/Acidic None (Silent)
CTA GAU Asp Hydrophilic/Acidic None (Missense)
CAC GUG Val Hydophobic/Neutral Less water soluble (Missense)
ATC UAG Stop Codon Not Applicable No protein made/shortened protein (Nonsense)
2
Viruses
  • Viruses are not cellular. They must invade a
    hosts cells to survive. Viruses contain either
    DNA or RNA wrapped up in a protein coating. They
    enter a hosts cells, shed their protein coating,
    and then force the cell to duplicate their
    genetic material.
  • If the virus is DNA based The cells replicate
    the DNA, the DNA is transcribed into RNA, the RNA
    is translated into the proteins needed by the
    virus for new coatings. Thus, new viral
    particles are formed, and these new viral
    particles are released in order to continue
    infecting other cells.
  • If the virus is RNA based The cells are forced
    to do one of the following
  • translate the RNA directly into proteins for the
    virus
  • undergo reverse transcription to first produce
    viral DNA from the viral RNA. Viruses that
    undergo reverse transcription are known as
    retroviruses.
  • HIV is the most infamous retrovirus of all.
  • Some of the first anti HIV drugs worked by
    targeting the enzymes needed for reverse
    transcription
  • Nonnucleoside reverse transcription inhibitors.
  • Nucleoside reverse transcription inhibitors.
  • Some work by inhibiting a different enzyme
    necessary for viral replication (protease
    enzyme). They are known as protease inhibitors.
  • CCR5 receptor antagonists work by blocking a
    receptor needed by some strains of the HIV virus
    to enter cells.

3
Problems
  • In transcription, does the RNA formed resemble
    the informational strand or the template strand
    more?
  • If the information strand of DNA is 5 ATG GCC
    CTG AAA 3, what is the complementary DNA strand?
  • What will be the sequence of the mRNA strand
    formed?
  • How do mutations cause genetic diseases?
  • Which of the following can have the sequence 3
    AUG CCA GUA 5?
  • DNA
  • RNA
  • Proteins
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