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ncrook
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What describes the transfer of genetic info within a cell?
Central dogma
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What are the stages of the central dogma?
DNA -> RNA -> Proteins
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What is the term for the process of DNA -> RNA?
Transcription
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What is the term for the process of RNA -> Protein?
Translation
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Name the Nitrogenous heterocyclic bases
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What nitrogenous base has a double ring and includes adenine (A) and guanine (G)?
Purines
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What nitrogenous base has a single ring and includes cytosine (C), thymine (T), and uracil (U)?
Pyrimidines
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What is responsible for the strong negative charge of both nucleotides and nucleic acids?
A phosphate group
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When A always pairs with T (or U in RNA) and C always pairs with G, what is this termed?
Complimentary base pairing
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What is the term for DNA and a histone complex?
Chromatin
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What are the coding parts of a gene called?
Exons
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What are the noncoding regions of a gene called?
Introns
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What are extrachromosomal DNA containing nonessential genetic info?
Plasmids
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What is the association of denatured DNA to native dsDNA?
Renaturation or annealing
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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)
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What are the fragments of DNA that are synthesized discontinuously called?
Okazaki fragments
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What are the enzymes are responsible for unwinding the parental double helix?
- Prokaryotes: Helicase
- Eukaryotes: Topoisomerase
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What enzyme breaks the phosphodiester bond in nucleic acids?
Nucleases
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What enzyme cuts only at the end of a nucleid acid, removing a single nucleotide at a time?
Exonucleases
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What refers to nonspecific cleaving when incubation conditions are not optimal?
Star activity
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What specimen is used to obtain mitochondrial DNA?
Usually hair follicles
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What can be used for genetic mapping, disease prediction, disease associations, and human identification?
Single nucleotide polymorphism (SNP or "snips")
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What is seen in some genetic diseases - like fragile X syndrome, Huntington disease, or Huntington chorea?
Trinucleotide repeat expansion
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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
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What is a double standed DNA binding dye thatmonitors accumulation of PCR products as they are made?
SYBR green
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What is the process of the RNA template being converted to a DNA copy (cDNA) by RNA dependent DNA polyermase?
Reverse transcriptase
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What enzyme sythesizes cDNA by extending primers?
DNA polymerase
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What enzyme seals gaps between adjacent primers?
DNA ligase
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What enzyme recognizes overlapping sequence of DNA and cuts it?
Cleavase
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What is a commonly used method in automated DNA sequencers?
Pyrosequencing or sequencing by synthesis
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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
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What is the most common single gene disorder for cystic fibrosis?
F508del (but about 1300 other mutations)
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What clinical condition results in a G (Q) to A (R) change at position 506 - R506Q?
Factor V Leiden
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What clinical condition results in the change of F508del?
Cystic fibrosis
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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
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What clinical condition is due to CAG expansion at 4p16.3?
Huntington disease
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What clinical condition is due to a translocation event: t(9:22)(q34:q11)?
Philadelphia chromosome (Ph)
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