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10 Cards in this Set

  • Front
  • Back
Give the equation for sensitivity.
Sensitivity = true positive /(true positive + false negative)
Give the equation for specificity.
Specificity = true negative / (true negative + false positive)
What is the difference between a polymorphism and a mutation?
A polymorphism is just a more common mutation with few effects.
What is a silent mutation? Can it affect splicing?
A point mutation which does not change which amino acid is being coded for. Yes, it can affect splicing.
What is a missense mutation? A conservative and a non-conservative one? Can these affect splicing?
A point mutation that changes which amino acid is being coded for. A conservative one does not change protein function; a non-conservative one does. Yes, they can affect splicing.
What is a nonsense mutation?
One that codes for a stop codon and truncates the protein.
What is a dynamic mutation?
One where there are trinucleotide repeats, which may increase in number through generations (and thus increase the severity of the disease).
What is a RFLP?
A restriction fragment length polymorphism. It can be used as a marker to identify individuals.
What does VNTR stand for, and what is its significance?
It stands for variable number of tandem repeats. It is a sequence of repeating code, the length of which is an identifying marker for indviduals. They can be minisatellites or microsatellies.
What are linkage studies?
They study markers that are closer to a certain gene (and are thus likely to be inherited with that gene), and observe family trends for having that gene. They work best with flanking markers.