Ch 15 Flashcards "Gene Mutation and Molecular Medicine"

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Ch 15 Flashcards "Gene Mutation and Molecular Medicine"
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2010-11-15 00:05:22
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ch 15
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  1. 2 mutation type
    • somatic
    • germ line
  2. Somatic Mutations
    • occur in body cells
    • not passed to offspring
    • passed onto daughter cells
  3. Germ Line Mutations
    • occurs in cells of germ line
    • passed onto offspring
  4. 4 different phenotypic effects of mutations
    • Silent Mutations
    • Loss of function mutations
    • gain of fuction mutation
    • conditional mutations
  5. Silent mutations
    • mutations that do NOT affect protein function
    • EX- can cause repeats sequences in noncoding DNA
  6. Loss of function Mutations
    • DOES affect protein functions
    • may lead to non functional proteins
    • EX- the recessive "wrinkled" seeds in Mendels expirements
  7. Gain of Function Mutation
    • ALTERS a proteins function
    • EX- Dominant traits
  8. Conditional Mutations
    • only show within certain conditions
    • EX- tempurature sensitive
  9. 2 categories of mutations
    • Point mutation
    • chromosomal mutations
  10. Point mutations
    result from addition or subtraction of a nucleotide base, or the substitution of one base for another
  11. 4 types of point mutations
    • Silent mutations
    • missense mutations
    • nonsense mutations
    • frame-shift mutations
  12. Silent mutations
    • mutations that have no effect on amino acids sequences
    • usually found in noncoding DNA
    • result in genetic diversity and is not expressed as phenotypic difference
  13. missense mutations
    • an amino acid is substituted for another in a protein
    • EX- sickle cell anemia
    • may have no effect on a protein, may reduce the fxn of a protein, or may cause the protein to gain a function
  14. Nonsense mutation
    • involes a base substitution that stops a codon to form
    • results in a shortened protein
  15. Frame-shift mutation
    • Single or couble bases are inserted or deleted
    • interferes with the translation of a genetic message
    • creates a shift of translation
  16. 4 types of chromosomal mutations
    • deletions
    • duplications
    • inversions
    • translocations
  17. Deletions
    results from removal of part of the genetic material
  18. duplications
    resulting form a chromosome having 2 copies of a segment that was deleted from the sister chromatid
  19. inversions
    results when a segment is deleted then reinserted into the same chromosome but flipped over
  20. translocations
    • results from a segment breaking off and is inserted into another chromosome
    • reciprocol translocations can happen if there is a trade of these segments
  21. restriction enzymes
    • used to defend bacteria from bacteriophages
    • cuts down double stranded DNA molecules into smaller, noninfectious pieces
  22. restriction digestion
    the cutting process used by enzymes
  23. recognition sequence/restriction site
    the site where the restriction enzyme cuts the DNA
  24. Gel eletrophoresis
    • used to seperate or purify DNA fragments
    • can help determine #of fragments, size of fragments, and abundance of fragments
  25. DNA fingerprinting
    technique used to ID individuals based on their DNA profiles
  26. Single nucleotide polymorphisms (SNPs)
    • inheritated variations involving a single nucleotide base (a point mutation)
    • EX - "ABCDEF" to "GBCDEF"
  27. Short tandem repeats (STRs)
    • short repetative DNA sequences that occur side by side on the chromosome
    • EX - "AGGAGGAGGAGGAGG"
  28. Prion
    • a protein free of DNA or RNA
    • "proteinaceous infective particle"
  29. multifactorial
    diseases caused by the interactions of many genes and proteins with one or more factors of the environment
  30. reverse genetics
    the process of finding the protein from the DNA instead of vise versa
  31. genetic markers
    reference points for gene isolation
  32. restriction fragment length polymorphisms (RFLPs)
    the differences in DNA sequences due to mutations in the restriction sites
  33. Expanding triplet repeats
    • a phenomenon that is unknown about
    • a fragment of DNA that is mutated is repeated and that fragment grows
  34. DNA testing
    • the direct analysis of DNA for mutations
    • offers the most direct and accurate wat to detect an abnormal allele
  35. gene therapy
    the act of inserting a new gene to be expressed in the host

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