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10 Cards in this Set
- Front
- Back
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Give the equation for sensitivity.
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Sensitivity = true positive /(true positive + false negative)
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Give the equation for specificity.
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Specificity = true negative / (true negative + false positive)
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What is the difference between a polymorphism and a mutation?
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A polymorphism is just a more common mutation with few effects.
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What is a silent mutation? Can it affect splicing?
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A point mutation which does not change which amino acid is being coded for. Yes, it can affect splicing.
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What is a missense mutation? A conservative and a non-conservative one? Can these affect splicing?
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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.
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What is a nonsense mutation?
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One that codes for a stop codon and truncates the protein.
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What is a dynamic mutation?
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One where there are trinucleotide repeats, which may increase in number through generations (and thus increase the severity of the disease).
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What is a RFLP?
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A restriction fragment length polymorphism. It can be used as a marker to identify individuals.
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What does VNTR stand for, and what is its significance?
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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.
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What are linkage studies?
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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.
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