Molecular Diagnostics

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Author:
ncrook
ID:
212503
Filename:
Molecular Diagnostics
Updated:
2013-05-05 22:53:32
Tags:
Intro Nucleic Acids
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Description:
Intro, Nucleic Acids, Nucleases, Nucleic Acid Isolation
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  1. What describes the transfer of genetic info within a cell?
    Central dogma
  2. What are the stages of the central dogma?
    DNA -> RNA -> Proteins
  3. What is the term for the process of DNA -> RNA?
    Transcription
  4. What is the term for the process of RNA -> Protein?
    Translation
  5. Name the Nitrogenous heterocyclic bases
    • Purines
    • Pyrimidines
  6. What nitrogenous base has a double ring and includes adenine (A) and guanine (G)?
    Purines
  7. What nitrogenous base has a single ring and includes cytosine (C), thymine (T), and uracil (U)?
    Pyrimidines
  8. What is responsible for the strong negative charge of both nucleotides and nucleic acids?
    A phosphate group
  9. When A always pairs with T (or U in RNA) and C always pairs with G, what is this termed?
    Complimentary base pairing
  10. What is the term for DNA and a histone complex?
    Chromatin
  11. What are the coding parts of a gene called?
    Exons
  12. What are the noncoding regions of a gene called?
    Introns
  13. What are extrachromosomal DNA containing nonessential genetic info?
    Plasmids
  14. What is the association of denatured DNA to native dsDNA?
    Renaturation or annealing
  15. What are the 2 requirements for renaturation or annealing?
    • Salt concentration must be high enough to overcome electostatic repulsion between negatively charged phosphate groups in 2 strands
    • Temp must be high enough to disrupt the random, nonspecific intrasrand hydrogen bonds (around 52 degrees celcius)
  16. What are the fragments of DNA that are synthesized discontinuously called?
    Okazaki fragments
  17. What are the enzymes are responsible for unwinding the  parental double helix?
    • Prokaryotes: Helicase
    • Eukaryotes: Topoisomerase
  18. What enzyme breaks the phosphodiester bond in nucleic acids?
    Nucleases
  19. What enzyme cuts only at the end of a nucleid acid, removing a single nucleotide at a time?
    Exonucleases
  20. What refers to nonspecific cleaving when incubation conditions are not optimal?
    Star activity
  21. What specimen is used to obtain mitochondrial DNA?
    Usually hair follicles
  22. What can be used for genetic mapping, disease prediction, disease associations, and human identification?
    Single nucleotide polymorphism (SNP or "snips")
  23. What is seen in some genetic diseases - like fragile X syndrome, Huntington disease, or Huntington chorea?
    Trinucleotide repeat expansion
  24. What is the conventional 3 step cycle of polymerase chain reaction (PCR)?
    • Sample DNA is denatured by heating 94-96 degrees celcius
    • Primers are added to the cooled sample to allow primers to anneal
    • DNA polymerase is added to extend primers and compledte DNA synthesis of target sequence defined by primaeers
  25. What is a double standed DNA binding dye thatmonitors accumulation of PCR products as they are made?
    SYBR green
  26. What is the process of the RNA template being converted to a DNA copy (cDNA) by RNA dependent DNA polyermase?
    Reverse transcriptase
  27. What enzyme sythesizes cDNA by extending primers?
    DNA polymerase
  28. What enzyme seals gaps between adjacent primers?
    DNA ligase
  29. What enzyme recognizes overlapping sequence of DNA and cuts it?
    Cleavase
  30. What is a commonly used method in automated DNA sequencers?
    Pyrosequencing or sequencing by synthesis
  31. What is the single gene disorder of Factor V Leiden?
    • G to A change
    • Results in substitution of the arginine (R) at position 506 by glutamine (Q); R506Q
  32. What is the most common single gene disorder for cystic fibrosis?
    F508del (but about 1300 other mutations)
  33. What clinical condition results in a G (Q) to A (R) change at position 506 - R506Q?
    Factor V Leiden
  34. What clinical condition results in the change of F508del?
    Cystic fibrosis
  35. What clinical condition results is due to expanding copies of the CGG codon in the gene FMR-1 located on the X chromosome; resulting in mental retardation in males?
    Fragile X syndrome
  36. What clinical condition is due to CAG expansion at 4p16.3?
    Huntington disease
  37. What clinical condition is due to a translocation event: t(9:22)(q34:q11)?
    Philadelphia chromosome (Ph)

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