GRE Subject Test: Biology : Understanding Genetic Patterns
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Example Questions
Example Question #2 : Genetic Sequences, Transcription, And Translation
Some inherited diseases of the liver, including Wilson's Disease, are primarily or entirely genetically determined. Wilson's Disease results when a defect in a copper transporter in the small intestine occurs, leading to copper level disregulation in both the hepatocytes and the systemic circulatory system. Mutations have primarily been found in the copper transporter that helps load copper onto a transport protein, apoceruloplasmin, which normally creates serum-soluble ceruloplasmin with the addition of copper. Given this defect, serum studies of an individual with Wilson's Disease would likely show what kind of change in serum ceruloplasmin compared with a normal individual?
Equivalent serum ceruloplasmin
The comparison cannot be estimated
Increased serum ceruloplasmin
Decreased serum ceruloplasmin
Decreased serum apoceruloplasmin
Decreased serum ceruloplasmin
The question informs us that the mutational defect in the gene involves the enzyme's ability to load copper onto apoceruloplasmin. Healthy individuals are able to load copper to apoceruloplasmin, creating serum-soluble ceruloplasmin. With this process disrupted in an individual with Wilson's Disease, we would expect that less ceruloplasmin would be produced because copper could not be transported. We would expect to see reduced serum levels of the complete protein, and high levels of copper building up in hepatocytes and circulatory serum.
Example Question #1 : Understanding Genetic Patterns
An error occurs during DNA replication, resulting in the insertion of a base pair. Replication of the original 3' DNA strand (template) produces a mutant 3' strand (mutant), as diagrammed below:
Template
3' - AUGGCCATTTTTATA - 5'
Mutant
3'- AUGCGCCATTTTTATA - 5'
Of the answers below, which best describes the type of mutation depicted above?
Repeat expansion
Frameshift mutation
Duplication mutation
Nonsense mutation
Missense mutation
Frameshift mutation
The addition of a number of nucleotides that is not a multiple of three shifts the reading frame of the codons in the gene. One base pair was inserted early in the strand, thus shifting the codon reading frame +1 to the right.
Missense and nonsense mutations imply base pair substitutions, which did not occur in the diagram. Similarly, nothing was duplicated, and repeat expansion would require multiple repetitions of a short DNA sequence.
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