All GRE Subject Test: Biochemistry, Cell, and Molecular Biology Resources
Example Questions
Example Question #1 : Mutation And Variation
Which of the following genotypes represents an individual with Turner syndrome?
XXX
YO
XXY
XYY
XO
XO
Individuals with Turners Syndrome have the XO genotype. They are phenotypically female but experience abnormalities. XXY is the genotype of an individual with Klinefelter syndrome. Individuals with the genotype XYY have what is known as XYY syndrome and are phenotypically normal, though they may be taller, and secrete excess testosterone. Triple-X syndrome is cause by an XXX genotype, and individuals are phenotypically normal. Lack of an X chromosome is lethal in humans.
Example Question #3 : Help With Mutation Types
Which of the following terms best describes non-random association of alleles at different loci?
Linkage equilibrium
Independent assortment
None of the other answers
Linkage disequilibrium
Crossing over
Linkage disequilibrium
The correct answer is linkage disequilibrium. This phenomenon occurs when two alleles do not segregate independently even though they are at different loci. Rather, they are statistically associated with one another above non-random conditions. This is important for understanding evolution of organisms from a common ancestor as well as for identification of disease-associated mutations or single nucleotide polymorphisms.
Example Question #1 : Mutation And Variation
Which of the following does not contribute to linkage disequilibrium?
Natural selection
Rate of recombination
Rate of mutation
Genetic drift
Asexual reproduction
Asexual reproduction
The correct answer is asexual reproduction. Linkage disequilibrium is the non-random association of alleles at different loci. Under typical genetic assumptions, alleles segregate independently. However, some alleles have statistical significant association. There are many causes for this "linkage", including natural selection of linked genes that may confer increased fitness, recombination events bringing distant alleles in close proximity, genetic drift favoring a subset of alleles over another due to random sampling, and rate of mutation (either insertions or deletions) that result in statistical association between alleles.
Example Question #5 : Help With Mutation Types
When mutations occur after the embryo has been fertilized and result in two or more genetically distinct populations of cells is best described as which of the following?
Chimera
None of the other answers
Non-disjunction
Mosaicism
Aneuploidy
Mosaicism
The correct answer is mosaicism. Mosaicism within an organism occurs when mutations, such as non-disjunction, occur in a subset of cells to give rise to genetically distinct cell populations. Chimeras also have genetically distinct cell populations, however, they occur from the fusion of two fertilized embryos. Aneuploidy occurs when an organism has an incorrect, but consistent number of chromosomes.
Example Question #6 : Help With Mutation Types
If two alleles, that is both copies of a given gene, are required for proper function of that gene and its product, a mutation in just one of the copies will result in a mutant phenotype. This is called (a) __________.
haplo-insufficiency
homozygosity
hypomorphism
heterozygosity
missense mutation
haplo-insufficiency
Haplo-insufficent means that both copies of the gene must be fully functional to impart a wild-type phenotype. Mutating/inactivating one copy is enough to cause a mutant phenotype, which can result in a disordered state. Heterozygosity/homozygosity describe whether the alleles are the same or different, but do not necessarily describe the above case. A missense mutation is a type of mutation that changes the protein structure. A hypomorph is a type of mutation that results in reduced gene function, but does not necessarily describe the above case.
Example Question #7 : Help With Mutation Types
Which of the following answers best describes a mutation where one allele is mutated in such a way that the resultant protein is structurally or functionally different, such that it interferes with the normal activity of the wild-type protein and disrupts that activity to form a partial or total mutant phenotype?
Missense mutation
Point mutation
Dominant-negative mutation
Frameshift mutation
Nonsense mutation
Dominant-negative mutation
While each of the mutations described above can lead to a dominant negative situation, the phrase dominant negative itself refers to the case where the mutant protein interacts with and interrupts the normal protein.
Example Question #8 : Help With Mutation Types
Which of the following descriptions reflects a nonsense mutation?
A uracil is replaced by an adenine in the primary transcript, resulting in a severely shortened final protein product.
A transition mutation changes one nucleotide in a gene, but the final protein still has the same amino acid structure as it did prior to the mutation.
A mutation in a gene causes a valine to be replaced by a glutamic acid residue in the final protein product.
An adenine is improperly added into a gene, resulting in a completely different amino acid sequence downstream to the mutation.
A uracil is replaced by an adenine in the primary transcript, resulting in a severely shortened final protein product.
Answering this question requires an understanding of what a nonsense mutation will entail for a protein. Nonsense mutations occur when a mutation in a gene causes an amino acid codon to be converted into a stop codon. This premature stop codon will cause the translation of the primary transcript to be prematurely terminated, resulting in a smaller than normal protein product. The uracil to adenine mutation that made a smaller protein reflects this type of mutation.
Example Question #1 : Help With Recombination
Which of the following methods results in no loss of information when repairing a double-stranded DNA break?
Translesion synthesis
Recombination
Non-homologous end joining
There is no way to prevent loss of information from a double-stranded break in DNA
Recombination
Recombination between homologous chromosomes is one of the only methods for repairing double-stranded breaks in DNA without losing information. This method only works, however, if there is an extra copy of the same DNA in the cell (i.e. on a homologous chromosome). Recombination is not possible prior to the S phase of the cell cycle, during which DNA is replicated.
Non-homologous end joining results in the deletion of a few base pairs, which can be problematic if done in the coding region of a gene. Translesion synthesis actually has nothing to do with double-stranded breaks, and refers to a method of accurately synthesizing DNA over mutations (such as thymine dimers) by using specialized polymerases.
Example Question #1 : Help With Recombination
Genetic recombination occurs during __________ of meiosis I, and genetic information is exchanged between __________.
metaphase . . . non-sister chromatids
metaphase . . . crossover gametes
anaphase . . . sister chromatids
prophase I . . . non-sister chromatids
prophase I . . . sister chromatids
prophase I . . . non-sister chromatids
Recombination occurs between homologous chromosomes, not the sister chromatids, and this happens in prophase I of meiosis.
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