Study EP2

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  1. On average, how many SNPs are present in a sequence?

    Most SNPs are functional or not functional?
    200 bp

    • Not functional
    • Because they do not fall within genes.
  2. What are Indels?
    Can they be multiplexed easily?
    Are they as common as SNPs?
    Through what mechanism do indels happen?
    Describe how the mechanism happens.
    What is another kind of mutation that has two categories?
    • Insertions or Deletions.
    • No, indels can not easily be multiplexed.
    • No, these kinds of mutations are not as common as SNPs.
    • Slippage Mechanism.
    • Indels occur when loops in a single-stranded region are stabilized by the "slipped mispairing" of repeated sequences in the course of replication.
    • Spontaneous lesions which have deprivation and deamination.
  3. What are micro satellites?
    What are SNP's mutation rates?
    What are micro satellites mutation rate? 
    Is micro satellites mutation rate higher or lower than SNPs?
    How are alleles identical?
    How are micro satellites or genotypes measured?
    • Microsatellites are simple tandem repeats of variable lengths.
    • 2x10^-8 per generation
    • 1x10^-2 to 1x10^-6
    • Microsatellites have a higher mutation rate.
    • Alleles are identical by state not by descent.
    • Microsatellites are measured by length.
  4. What are the synonyms for Copy Number Variations (CNVs)?

    What are CNVs?
    What are the differences that are usually present?
    What do they include?
    Structural Variations or Copy Number Polymorphism.

    • Large-scale differences in the genome content.
    • Differences in the number of copies of parts of individual genes, entire genes, or sets of genes.
    • CNVs include Repeats and duplications that increase the copy number and deletions that reduct the copy number.
  5. How many CNVs are there of how many base pairs?

    Between two genomes, an average of what are affected?
    11700 CNVs of 44 bp

    1000 CNVs and 24 Million bases are affected.
  6. What are two transposable elements.
    How much of the human genome is derived from transposable elements?
    What are the two types of the retrotanspos
    • LINEs and SINEs.
    • Almost half of the human genome is derived from transposable elements.
  7. How do LINE's move?
    What do they lack the features of?

    What are SINEs described as?
    How are they mobilized?
    LINEs move like retrotransposons with the help of an element-encoded reverse transcriptase but lack the features of a retrovirus-like elements.

    • SINEs are described as non autonomous LINEs because the structural features of LINEs but do not encode their own reverse transcriptase.
    • SINEs are mobilized by reverse transcriptase enzymes that are encoded by the LINEs residing in the genome.
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Study EP2
2015-01-28 03:21:37
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