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PACAT > Genetics Subject Review > Flashcards

Genetics Subject Review Flashcards

1
Q

A researcher examines the distribution of human height and weight in a population.

What method should they use to analyze potential correlations between phenotypic data and genotypic data?

a. Association mapping

b. Deletion mapping

c. High-resolution recombination mapping

d. Linkage mapping

A

a. Association mapping

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2
Q

A researcher studying invertebrates notes a colinear relationship between genome organization and gene regulation during development.

What genes follow this pattern?

a. Hox

b. Nodal

c. Pax

d. Pitx

A

a. Hox

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3
Q

A cancer researcher investigates loss of function mutations in tumor suppressor genes.

What gene codes for a protein involved in identification of DNA damage, pausing of cell cycle progression, and induction of apoptosis?

a. APC

b. NF2

c. PARP-1

d. TP53

A

d. TP53

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4
Q

Microorganisms are harnessed for complex research and industrial techniques.

Which of these species provides a widely used DNA polymerase?

a. Escherichia coli

b. Phlebia radiata

c. Puccinia canaliculata

d. Thermus aquaticus

A

d. Thermus aquaticus

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4
Q

A researcher examines selective protein expression through immunoassay.

What technology have they used?

a. DNA sequencing

b. PCR

c. Vector cloning

d. Western blot

A

d. Western blot

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5
Q

A researcher induces a transposition to study genes of cancer pathogenesis.

What process have they performed?

a. DNA sequencing

b. Gene mutagenesis

c. Human gene therapy

d. Reproductive cloning

A

b. Gene mutagenesis

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6
Q

A functional RNA molecule is transcribed but is not translated to a protein.

What is targeted by a subset of these molecules engaged in genome defense of mobile repetitive sequences?

a. Genes

b. lncRNAs

c. mRNAs

d. Transposons

A

d. Transposons

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6
Q

A sophisticated interplay of macromolecules carries out protein synthesis in eukaryotes.

What is the original source of genetic code used during this process?

a. DNA

b. mRNA

c. rRNA

d. tRNA

A

a. DNA

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6
Q

Chromatin condensation is variable at different points throughout the life cycle of a cell.

At what point is euchromatin relatively decondensed?

a. Interphase

b. Metaphase

c. Prophase

d. Telophase

A

a. Interphase

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6
Q

A eukaryotic macromolecule contains adenine (A), thymine (T), guanine (G), and cytosine (C).

Which site along this structure is characterized by repetitive nucleotides such as TTAGGG?

a. Origin of replication

b. Replication fork

c. Secondary structures

d. Telomere

A

d. Telomere

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7
Q

Case:
The brown anole (Anolis sagrei) is a species of lizard found in the Bahamas and Cuba and often preyed upon by the Northern curly-tailed lizard (Leiocephalus carinatus). The predators somehow have an exclusive preference for the male brown anoles. As a result, the males have developed longer legs than the females to escape the predators.

Question:
What is this an example of?

a. Mating behavior

b. Natural selection

c. Random mutation

d. Sex determination

A

b. Natural selection

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8
Q

A scientist performs a mixed infection of two different bacteriophage mutants upon Escherichia coli, where each individual mutant is unable to lyse host cells. Results demonstrate presence of multiple viral plaques after incubation over host bacteria, with phage progeny containing parental genotypes.

What process has occurred?

a. Complementation

b. Mutation

c. Recombination

d. Transformation

A

a. Complementation

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8
Q

Messenger RNA (mRNA) produced from DNA serves as a template for protein synthesis. Before protein synthesis, most mRNA undergoes further maturation in capping and polyadenylation, where a guanine nucleotide is added to the 5’ end and a number of adenine nucleotides are added to the 3’ end.

What is this an example of?

a. Induced mutation

b. Post-transcriptional modification

c. Post-translational modification

d. Spontaneous mutation

A

b. Post-transcriptional modification

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9
Q

Histones can undergo chemical modification on select amino acid residues, regulating the expression of the respective gene. Lysine residues on histone H3 can undergo methylation through the covalent addition of methyl residues, represented as H3K27me3, i.e., lysine residue number 27 on histone H3 has three methyl residues attached to it.

What is this an example of?

a. Induced mutation

b. Post-transcriptional regulation

c. Post-translational regulation

d. Spontaneous mutation

A

c. Post-translational regulation

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10
Q

The Agouti gene locus for mice coat color exists as two alleles: a homozygous black and a heterozygous yellow variant. Crossing yellow mice has the expected offspring ratio of 1:2:1 for homozygous black: heterozygous yellow: homozygous yellow, but the homozygous yellow genotypes are completely absent in the offspring.

What are such alleles an example of?

a. Epistasis

b. Lethality

c. Pleiotropy

d. Polygenic inheritance

A

b. Lethality

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11
Q

Turner syndrome is a chromosomal condition that affects development in females. The most common feature is short stature. Many of those affected do not undergo puberty unless they receive hormone therapy, with most unable to conceive (infertile).

Refer to the image of a karyotype. What is the nature of the chromosomal defect in Turner syndrome?

a. Aneuploidy

b. Duplication

c. Euploidy

d. Insertion

A

a. Aneuploidy

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12
Q

Cri du chat (cat’s cry) syndrome is a rare genetic disorder that results in stunted growth, behavioral problems, and severe cognitive, motor, and speech difficulties. The syndrome derives its name from the characteristic cry of infants with the condition that resembles a mewing kitten due to problems with the larynx and nervous system. The genetic basis of the disease was identified to be a chromosomal defect, specifically on chromosome 5.

Refer to the image of a karyotype from a patient with the condition with the chromosomal defect indicated by an arrow. What is the nature of this defect?

a. Aneuploidy

b. Deletion

c. Inversion

d. Translocation

A

b. Deletion

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13
Q

A population undergoes changes that favor the extreme values of its genetics rather than intermediate values. What type of selection is this population subject to?

a. Directional selection

b. Disruptive selection

c. Negative selection

d. Stabilizing selection

A

b. Disruptive selection

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14
Q

An individual undergoes a change in the number of chromosomes in certain cells, resulting in two cell populations with different chromosomal structures. What type of aneuploidy will result?

a. Monosomy

b. Mosaicism

c. Triploidy

d. Trisomy

A

b. Mosaicism

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15
Q

A donor bacterial cell transfers DNA to a recipient cell through direct physical cell-to-cell contact. Which type of horizontal gene transfer has occurred?

a. Conjugation

b. Transduction

c. Transfection

d. Transformation

A

a. Conjugation

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16
Q

The primary means by which bacteria acquire antibiotic resistance is through horizontal gene transfer (HGT).

Which HGT process requires the cell to be in a state of competence, allowing for the active transport of environmental DNA across their cell membrane and incorporation into their endogenous DNA?

a. Conjugation

b. Transduction

c. Transfection

d. Transformation

A

d. Transformation

17
Q

Cancer is a complex human disease characterized by the uncontrollable growth of abnormal cells, regardless of the normal processes of cell division.

How can tumor suppressor genes aid in preventing this process?

a. Initiating programmed cell death

b. Preventing accumulation of DNA damage

c. Regulating cell differentiation

d. Stimulation of cell division

A

a. Initiating programmed cell death

18
Q

Case:
Genetic testing for two healthy adults planning a pregnancy reveals the presence of an autosomal recessive lethal gene carried by both individuals.

Question:
What outcome may occur with each pregnancy?

a. 25% chance of offspring with the lethal disease

b. 50% chance of offspring not affected by the disease

c. 75% chance of offspring with two copies of the gene

d. 100% chance of offspring with one copy of the gene

A

a. 25% chance of offspring with the lethal disease

18
Q

Case:
Both parents possess the gene for a trait expressed in association with the presence of testosterone.

Question:
What type of inheritance will their offspring exhibit?

a. Sex-influenced inheritance

b. Sex-limited inheritance

c. X-linked codominant inheritance

d. Y-linked recessive inheritance

A

a. Sex-influenced inheritance

19
Q

The study of genetics has given a wealth of evidence for evolution. Tracing the molecular evolution of mitochondria in Homo sapiens has given evidence of the timing of our migration out of Africa and has helped confirm the discovery of a new species, the Denisovans. What concept is a result of the study of the molecular evolution of mitochondrial inheritance?

a. Breeding between Homo sapiens and Neanderthals.

b. Identifying the perpetrator of a crime by DNA analysis.

c. Sequencing DNA of family members with a history of a mitochondrial disorder.

d. Identifying a deleterious mutation in a mitochondrial gene with PCR.

A

a. Breeding between Homo sapiens and Neanderthals.

19
Q

Case:
A cluster of genes called the Hox genes are important in animals’ early embryonic development for laying out the general map of the body, including head, tail, and limb formation. The Hox genes are an example of a homeobox—a cluster of genes—that encode transcription factors, which are proteins that function to turn other genes on and off. The Hox genes are highly conserved amongst animal species, and duplications of the Hox homeobox have occurred in vertebrates and led to four sets of each homeobox for most vertebrates. Each duplicated gene can have a slightly different role and expression level during development, and combinations of expression of the duplicated genes can lead to greater complexity of function.

Question:
What can you determine about the duplicated Hox genes in vertebrates in the figure that shows patterns of expression of various HOX genes? Refer to the image.

a. Hox 12 and Hox 13 are only involved in limb formation.

b. Hox 4 and Hox 9 have diverse roles in development.

c. Hox A and Hox C alone are sufficient in development because they contain at least one copy of all the Hox genes.

d. Hox C and Hox D would have the same relative expression levels during development.

A

b. Hox 4 and Hox 9 have diverse roles in development.

20
Q

A haplotype is a region of DNA (both coding and non-coding) such that the sequences are often inherited as a group due to their close proximity on the same chromosome. Haplotypes may contain variations that do not directly affect the translated amino acid sequence of the protein.

Age-related macular degeneration (AMD) is a degenerative eye disease that causes vision loss in the center of the visual field. Recent research has shown a region on chromosome 10 that is linked with AMD (10q26), including two genes: HTRA1 and ARMS2. What mutation event is consistent with an untranslated variation within the AMD 10q26 disease-associated haplotype?

a. Deletion of one nucleotide in an exon of HTRA1 or ARMS2

b. Frame-shift mutation of two nucleotides in HTRA1 or ARMS2

c. Point mutation in an intron within HTRA1 or ARMS2

d. Splice site mutation in HTRA1 or ARMS2

A

c. Point mutation in an intron within HTRA1 or ARMS2

20
Q

Case:
Hemophilia is an example of a genetic mutation that causes altered function or loss of function in the translated protein. In classic hemophilia, a mutation in the F8 gene, which codes for a protein called coagulation factor VIII, leads to an altered or abnormal version of the coagulation protein. A severe mutation leads to a severe case of hemophilia, while a minor mutation leads to a mild case of hemophilia.

Question:
What mutation would be considered the most severe mutation and alter the function of the protein product?

a. A point mutation that leads to a change in a single amino acid

b. A point mutation that leads to a stop codon

c. A point mutation that occurs within an intron

d. A point mutation that occurs within the promoter region

A

b. A point mutation that leads to a stop codon

21
Q

Case:
The most common form of inherited breast cancer is a mutation in the BRCA1 or BRCA2 genes (or BReast CAncer genes 1 and 2, respectively), but mutations in these two genes account for only 5-10% of all breast cancer cases. A mutant BRCA1 or BRCA2 gene increases the risk of breast cancer but does not always lead to the development of breast cancer. Mutations in the BRCA genes are inherited in an autosomal dominant pattern of inheritance.

Question:
What best describes the inheritance of mutated BRCA genes?

a. BRCA1 and BRCA2 mutations are only passed from mother to daughter.

b. Either parent can contribute a mutated BRCA1 or BRCA2 gene.

c. Males are not affected by mutated BRCA genes.

d. The BRCA1 and BRCA2 genes are on the X chromosome.

A

b. Either parent can contribute a mutated BRCA1 or BRCA2 gene.

22
Q

The proteome, much like the genome, is the entire set of proteins within a cell. While all cells have the same genes, different cell types have different sets of proteins that are actively translated, so the proteomes among cells may be very different. What technique can be used to assay changes in the proteome?

a. Calcium flux assay

b. Karyotyping

c. Mass spectrometry

d. Polymerase chain reaction (PCR)

A

c. Mass spectrometry

23
Q

An animal that has been genetically modified with the DNA of another species is called a transgenic animal. One or more genes are inserted into the host animal’s DNA, where they can be transcribed and translated into their respective proteins. What is an example of a transgenic animal?

a. A mouse that expresses human amyloid precursor protein

b. A fecal bacteria transplant in the gastrointestinal tract

c. A mouse injected with an antibody isolated from a rabbit

d. A heart valve replacement using a heart valve from a pig

A

a. A mouse that expresses human amyloid precursor protein

24
Q

Bioremediation is a branch of biotechnology that utilizes bacteria to clean up environmental pollutants. The bacteria can be native species or introduced by humans. What is an example of bioremediation?

a. Fermentation of grapes into wine

b. Overgrowth of C. difficile in the intestines after high doses of antibiotics

c. Reduction of selenium ions into metallic selenium

d. Symbiotic nitrogen fixation

A

c. Reduction of selenium ions into metallic selenium

24
Q

What is a characteristic of dideoxynucleotides?

a. Binding only to their complementary dideoxynucleotide

b. Fluorescing with a single fluorophore

c. Forming of a string of multiple dideoxynucleotides during sequencing

d. Lacking a 3’ -OH group

A

d. Lacking a 3’ -OH group

25
Q

Viruses come in a wide variety of shapes and classes. They can have DNA or RNA as their genetic material. Some key features are found in all viruses, but what is an optional component of a virus?

a. Capsid

b. Capsomeres

c. Envelope

d. Nuclear core

A

c. Envelope

25
Q

Polymerase chain reaction, or PCR, is a valuable molecular technique. This technique takes a DNA sample and makes thousands of copies of a specific sequence through multiple rounds of transcription. Primers that bind either end of the gene signal where to start transcription. High heat causes the double-stranded DNA to separate into single strands, and the same enzyme that transcribes DNA endogenously transcribes the target sequence over and over. What is this enzyme?

a. DNase

b. Helicase

c. Ligase

d. Polymerase

A

d. Polymerase

25
Q

In eukaryotic organisms, the regulation of genes can occur at the transcriptional level and at the translational level. Translational regulation refers to regulation that occurs after a gene has been transcribed from DNA into an mRNA but before it has been translated into a protein. What is an example of translational regulation?

a. Histone modification of DNA

b. Micro RNA (miRNA) binding to an mRNA

c. Production of pre-mRNA

d. Repressor binding to a promoter

A

b. Micro RNA (miRNA) binding to an mRNA

26
Q

Translation is the process in which messenger RNA (mRNA) is translated into a polypeptide chain, which is then folded into a protein. What organelle is the site of mRNA translation into protein?

a. Endoplasmic reticulum

b. Mitochondria

c. Nucleus

d. Ribosome

A

d. Ribosome

27
Q

Which statement applies to the elongation stage of transcription?

a. RNA polymerase binds to a sequence of DNA known as a promoter.

b. RNA polymerase builds an RNA molecule, making a chain.

c. RNA polymerase separates the DNA strands, creating a single-strand template.

d. Sequences send signals that release the transcript from the RNA polymerase.

A

b. RNA polymerase builds an RNA molecule, making a chain.

28
Q

Deoxyribonucleic acid (DNA) functions as a blueprint, encoding genetic material. Ribonucleic acid (RNA) functions to read that genetic information in order to build proteins. The two are nearly identical structurally. What best describes a key structural difference between DNA and RNA?

a. DNA strands are typically shorter than RNA strands.

b. RNA consists of 2 strands made up of nucleotides.

c. The deoxyribose sugar in DNA makes it more stable than RNA.

d. The ribose sugar in RNA makes it more stable than DNA.

A

c. The deoxyribose sugar in DNA makes it more stable than RNA.

28
Q

Genetic mapping is the process of diagramming the relative sequence of genes on chromosomes. Because the genes on a chromosome are physically connected to each other, chromosomes are also referred to as what?

a. Genetic linkages

b. Genetic maps

c. Linkage groups

d. Syntenic

A

c. Linkage groups

29
Q

A couple considering pregnancy are concerned about the fact that the father has Duchenne muscular dystrophy. The mother does not carry a recessive gene for the disorder. How should they be advised concerning their offspring?

a. Daughters have a 50% chance of carrying the recessive gene.

b. Daughters will not receive a copy of the recessive gene.

c. Sons have a 50% chance of inheriting the disorder.

d. Sons will not be affected by the disorder.

A

d. Sons will not be affected by the disorder.

29
Q

Sex determination in humans is based on the presence of a Y chromosome. How is the chromosome structure of the male gamete classified?

a. Hemizygous

b. Heterogametic

c. Holandric

d. Homogametic

A

b. Heterogametic

30
Q

A couple expecting a child have different blood types; the mother is AO and the father is BO. Which blood type in the infant would be an example of codominance?

a. AB

b. AO

c. BO

d. O

A

a. AB

31
Q

When preparing a class presentation comparing and contrasting sexual reproduction and asexual reproduction, what information demonstrates the instructor’s accurate understanding of this topic?

a. Asexual reproduction ensures genetic variation in offspring.

b. Asexual reproduction involves the formation and fusion of gametes.

c. Sexual reproduction creates new combinations of genetic material.

d. Sexual reproduction produces cells that are replicas of the parent cell.

A

c. Sexual reproduction creates new combinations of genetic material.

32
Q

A couple planning to have children learn that both parents carry the gene for cystic fibrosis, an autosomal recessive trait. Following genetic counseling, what statement from the parents indicates an appropriate understanding of the discussion?

a. There is a 25% chance that the offspring will inherit the recessive gene.

b. There is a 25% chance that the offspring will have the disease.

c. There is a 50% chance that the offspring will not inherit the recessive gene.

d. There is a 50% chance that the offspring will have the disease.

A

b. There is a 25% chance that the offspring will have the disease.

32
Q

Mendel’s Law of Segregation consists of four basic principles. What statement related to these principles is accurate?

a. A gene for any trait will exist in only one form.

b. For each trait, individuals inherit one gene from either one parent or the other.

c. Sex cells contain a complete complement of the organism’s genes.

d. If an individual has a dominant gene for a trait, then a recessive gene’s trait will be hidden.

A

d. If an individual has a dominant gene for a trait, then a recessive gene’s trait will be hidden.

33
Q

What is an appropriate application of the Chi-Squared test in the study of genetics?

a. Determining if there is a statistically significant difference between two sets of sample data with unequal variance

b. Determining if an outlier point in a set of data can be safely eliminated from subsequent averages and calculations

c. Determining if resulting numbers of offspring observed match the proposed model of inheritance for a trait

d. Determining the frequency that a particular trait should occur in the offspring of two parents with known phenotypes

A

c. Determining if resulting numbers of offspring observed match the proposed model of inheritance for a trait

33
Q

Regarding the evaluation of one’s haplotype, which of the following statements is correct?

a. A haplotype refers to a group of genes that share a common ancestor with a single-nucleotide polymorphism mutation.

b. A haplogroup is a set of similar genes inherited from a single parent.

c. A person’s haplogroup can only be confirmed by Y-chromosome SNP tests.

A

c. A person’s haplogroup can only be confirmed by Y-chromosome SNP tests.

33
Q

The M phase occurs at the end of the eukaryotic cell cycle. In that phase, how is cytokinesis differentiated from mitosis?

a. Formation of a protein contractile ring structure

b. Initiation only after nuclear division is completed

c. Part of the preparation for cell division

d. Occurrence of chromosome replication

A

a. Formation of a protein contractile ring structure

34
Q

When gametes are formed, different genes separate independently from each other, so that each haploid cell contains a mix of genes from each parent.

What does recombination contribute to this process?

a. Halves number of chromosomes

b. Predicts how a single trait is inherited

c. Produces traits that match those of the parents

d. Scrambles homologous parent genes randomly

A

d. Scrambles homologous parent genes randomly

PACAT (20 decks)

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