Human Genetics
Test Preparation
Course Introduction
Human Genetics explores the principles and mechanisms underlying the inheritance of traits in humans, focusing on the molecular, cellular, and chromosomal basis of genetic variation. The course covers Mendelian and non-Mendelian inheritance, gene regulation, genetic mutations, population genetics, and the impact of genetics on health and disease. Emphasis is placed on modern genetic technologies such as genome sequencing, genetic counseling, and ethical considerations in genetic research and medicine. Case studies and recent discoveries are discussed to illustrate the application of genetic principles in real-world contexts.
Recommended Textbook
Genetics Analysis and Principles 5th Edition by Robert Brooker
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Page 2
Chapter 1: Overview of Genetics
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Sample Questions
Q1) If a geneticist is studying the prevalence of a trait in a species, they are at the _________ level of study.
A) population
B) organismal
C) cellular
D) molecular
Answer: A
Q2) Which of the following acts to accelerate chemical reactions in a cell?
A)Nucleic acids
B)Lipids
C)Carbohydrates
D)Enzymes
E)None of the answers are correct
Answer: D
Q3) Science may be conducted using a process called the scientific method.
A)True
B)False
Answer: True
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Chapter 2: Mendelian Inheritance
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Sample Questions
Q1) A true breeding line of green pod pea plants is crossed with a true-breeding line of yellow pod plants. All of their offspring have green pods. From this information, it can be stated that the green color is _____ to the yellow color.
A)Recessive
B)Dominant
C)Subservient
D)Blended
E)None of the answers are correct
Answer: B
Q2) The genetic composition of an individual is called its _____________.
A)Phenotype
B)Genotype
C)Hybrid
D)Dominance
E)None of the answers are correct
Answer: B
Q3) The Chi-square test is used to prove that a hypothesis is correct.
A)True
B)False
Answer: False
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Chapter 3: Chromosome Transmission During Cell Division and Sexual Reproduction
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Sample Questions
Q1) The location of a gene on a chromosome is called its _____________.
A)karyotype
B)allele
C)locus
D)homolog
Answer: C
Q2) You are performing a karyotype for the first time and you forget to add the colchicine. How do you predict this will affect your karyotype?
A) No affect - your karyotype will look normal.
B) You will be unable to see any chromosomes under the microscope.
C) You will only be able to see one of each chromosome.
D) The chromosomes in some cells will look normal (highly compacted) but in other cells distinct chromosomes will be hard to identify.
Answer: D
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5
Chapter 4: Extensions of Mendelian Inheritance
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Sample Questions
Q1) If a light-eosin eye male Drosophila is crossed to a homozygous red eyed female, what will be the phenotype of their offspring?
A)All offspring will have red eyes.
B)All males will have light-eosin eyes and all females will have eosin eye
C)All females will have red eyes, all males will have light-eosin eyes.
D)All flies will have white eyes.
Q2) How did Bateson and Punnett's work with comb morphology in chickens differ from the dihybrid work of Mendel?
A)They were working with sex-limited traits.
B)Their F<sub>2</sub> offspring displayed 4 unique phenotypes, not the four combinations of two phenotypes expected in a Mendelian cross.
C)½ of their combinations were lethal.
D)The expression of their trait varied by the environment in which the chickens were raised.
Q3) Incomplete dominance is an example of blending of phenotypes, not genotypes.
A)True
B)False
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Page 6
Chapter 5: Non-Mendelian Inheritance
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Sample Questions
Q1) Differentially methylated domains (DMDs) are associated with which of the following?
A)X-inactivation
B)Genomic imprinting
C)Maternal inheritance
D)Extranuclear inheritance
E)All of the answers are correct
Q2) Which inheritance pattern is common to oogenesis, spermatogenesis, and embryogenesis?
A)Maternal inheritance
B)Epigenetic inheritance
C)Maternal effect
D)Paternal inheritance
Q3) How many Barr bodies would an individual with a XXY genotype possess?
A)0
B)1
C)2
D)None of the answers are correct
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Chapter 6: Genetic Linkage and Mapping in Eukaryotes
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Sample Questions
Q1) A map unit or centimorgan is equal to a 10% recombination frequency.
A)True
B)False
Q2) The number of linkage groups in a species that does not have sex chromosomes is:
A)1n
B)1n + 1
C)2n
D)2n + 2
Q3) An organism that contains patches of tissue that vary for a specific characteristic such as a pigment, can be an example of which of the following?
A) Linkage
B) Meiotic recombination
C) Mitotic recombination
D) Translocations
E) None of the answers are correct
Q4) Two genes that are located on the same chromosome are said to be _______.
A)physically linked
B)recombinant
C)parental-like
D)nonparental-like
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Chapter 7: Genetic Transfer and Mapping in Bacteria and Bacteriophages
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Sample Questions
Q1) First observed by Lederberg and Zinder (1952) in Salmonella typhimurium.
A) Transformation
B) Transduction
C) Conjugation
D) All of the answers are correct
Q2) In the Lederberg and Tatum experiment what is the purpose of performing the experiment with the strains without adding them together?
A) It serves as a control to calculate the rate of reversion mutations
B) There is no experimental purpose to performing that part of the experiment
C) It tests that the strains were made correctly
D) It tests to make sure the media was made correctly
Q3) Which of the following represents a mechanism of genetic transfer in bacteria?
A) Transformation
B) Transduction
C) Conjugation
D) All of the answers are correct
Q4) Most biologists consider viruses to be living organisms, which are classified with the bacteria.
A)True
B)False
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Chapter 8: Variation in Chromosome Structure and
Number
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Sample Questions
Q1) Trisomy 8 usually leads to early miscarriage of a fetus. However, adult individuals have been found with cells that have three copies of chromosome 8 in them. How can this be?
A)The trisomic 8 adults likely have a mosaic region with trisomy 8.
B)The trisomic cells underwent complete nondisjunction.
C)The trisomic cells underwent a meiotic nondisjunction.
D)This individual must be triploid.
Q2) You perform comparative genomic hybridization. You correctly synthesize your red and green DNA, but you forget to treat the DNA with heat before you apply the samples to metaphase chromosomes. What will the ratio of green fluorescence to red fluorescence be?
A)0
B)1
C)2
D)There will be no signal.
Q3) Polyploid plants tend to produce fewer fruits and flowers, be smaller in size, and not adapt as well to extreme environmental conditions as normal varieties.
A)True
B)False
Page 10
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Chapter 9: Molecular Structure of DNA and RNA
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Sample Questions
Q1) A purine on one strand of the DNA is always paired with a pyrimidine on the other strand.
A)True
B)False
Q2) One strand of DNA is 5' - AGGCCTTA - 3'. What is the opposite strand?
A) 5'-AGGCCTTA-3'
B) 5'-TCCGGAAT-3'
C) 3'-AGGCCTTA-5'
D) 3'-TCCGGAAT-5'
Q3) The helical shape of the DNA contains major and minor grooves, which assist in the regulating of gene expression.
A)True
B)False
Q4) What is a component of a single nucleotide?
A)A phosphate group
B)A six carbon sugar
C)All five nitrogenous bases
Q5) DNA is recognized as a left-handed molecule.
A)True
B)False
11
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Chapter 10: Chromosome Organization and Molecular Structure
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Sample Questions
Q1) An Alu sequence is an example of what?
A)Retroelement
B)Transposable element
C)Highly repetitive DNA
D)All of the answers are correct
Q2) Areas of the chromosome that remain highly condensed are called ______.
A)Euchromatin
B)Facultative heterochromatin
C)Constitutive heterochromatin
D)Barr body
Q3) What is the purpose of MARs and SARs?
A) To bind to the nuclear matrix
B) To form loop structure
C) To condense DNA
D) All of the answers are correct
Q4) How many origins of replication are there in bacteria?
A)0
B)1
C)2
D)More than two
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Chapter 11: DNA Replication
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Sample Questions
Q1) The synthesis of the daughter strand of DNA occurs away from the replication fork in the leading strand.
A)True
B)False
Q2) In eukaryotes, which of the following is similar to the oriC region of prokaryotes?
A)Dam
B)ARS elements
C)Promoters
D)Telomeres
Q3) Synthesizes the lagging strand of the DNA.
A)DNA ligase
B)DNA primase
C)Topoisomerase
D)DNA polymerase I
E)DNA polymerase III
Q4) The proofreading of the DNA occurs in the _________.
A)5' to 3' direction
B)3' to 5' direction
C)Both directions
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Chapter 12: Gene Transcription and RNA Modification
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Sample Questions
Q1) A mutation in TFIIIE could result in
A)a failure of the RNA polymerase to bind to TFIIB
B)a failure of the RNA polymerase to maintain an closed complex
C)a failure of the RNA polymerase to maintain an open complex
D)no effect on transcription
Q2) The results obtained when the linker was cloned between -50 and -100 indicate that
A)this region is not critical for transcription but can enhance transcription
B)the assay failed
C)when cloned in this region the linkers had a transacting effect
D)the results of the assay were variable and this is just due to random variation in the assay
Q3) Which molecules are not part of the closed promoter complex?
A)RNA polymerase
B)Transcription factors
C)Double helix DNA
D)Single-stranded DNA
Q4) The unit of transcription at the molecular level is the gene.
A)True
B)False
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Chapter 13: Translation of MRNA
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Sample Questions
Q1) The genetic code is universal in nuclear DNA from bacteria to mammals.
A)True
B)False
Q2) You perform a cell free translation experiment like Nirenberg and Matthaei, but you forget to write down what nucleotides you added to make the mRNA. You precipitate the translated polypeptides and measure the relative amount of radiolabeled amino acids incorporated into them. You get 25% proline, 25% threonine, 12.5% glutamine, 12.5% lysine, 12.5% asparagine, and 12.5% histidine. What nucleotides and in what % did you add to make the mRNA?
A)Equal amounts of A, C, U, and G
B)50% C and 50% A
C)70% C and 30% A
D)50% C and 50% U
E) 50% A and 50% G
Q3) \(\alpha\)-helices and \(\beta\) -sheets are examples of what level of protein structure?
A)Primary structure
B)Secondary structure
C)Tertiary structure
D)Quanternary structure
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Chapter 14: Gene Regulation in Bacteria
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Sample Questions
Q1) In Jacob, Monod, and Pardee's experiment, what would have been the conclusion if all four tubes produced a yellow color when b-ONPG was added?
A)Expression of the lac operon is constitutive whether lacI is functional or not
B)LacI provides the binding site for the repressor
C)LacI encodes a diffusible repressor
D)The researcher added too much b-ONPG
Q2) A gene is inducible and under negative control. Which of the following pairs will allow expression of this gene?
A)Activator + repressor
B)Activator + inhibitor
C)Repressor + inducer
D)Repressor + co-repressor
Q3) The regulation of the CAP complex using cAMP is an example of inducible genetic regulation.
A)True
B)False
Q4) A riboswitch only affects translation of an operon.
A)True
B)False
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Chapter 15: Gene Regulation in Eukaryotes I: Transcriptional Regulation
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Sample Questions
Q1) A particular gene has a mutation in its NFR that causes it to bind abnormally tightly to histones. What effect would you expect this mutation has on the expression of this gene?
A)The expression of the gene would be abnormally high.
B)The effect on gene expression is impossible to predict.
C)The gene would encode a different protein instead.
D)The expression of the gene would be abnormally low or absent.
E) The promoter of the gene will be constantly available to transcription factors and RNA polymerase.
Q2) Which DNA sequence important for gene expression is usually contained within the NFR?
A)Core promoter
B)CREB binding site
C)Histone binding site
D)Transcription termination sequence
E) Hormone response element
Q3) Housekeeping genes are unmethylated and active in most cells.
A)True
B)False
17
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Chapter 16: Gene Regulation in Eukaryotes II: Epigenetics and
Regulation at the RNA Level
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Sample Questions
Q1) How many Barr bodies would an individual with a XXY genotype possess?
A)0
B)1
C)2
D)None of the answers are correct
Q2) What is the molecular mechanism for imprinting a gene?
A)Acetylation
B)Nitration
C)Phosphorylation
D)Methylation
Q3) If a cell is fused with another cell, which of the following would be the best example of a trans-mechanism of epigenetic control?
A)A gene that is originally silenced in one cell but expressed in the other is silenced in the hybrid
B)A gene that is originally silenced in one cell but expressed in the other is still expressed in the hybrid.
C)The methylation pattern of the same gene from either cell is not altered
D)There are no examples that could conform to a trans-mechanism
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Chapter 17: Genetics of Viruses
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Sample Questions
Q1) Many scientists and drug companies have worked hard to produce drugs to stop various stages of the HIV life cycle. Some drugs have been tested that inhibit the function of Vpu. What stage of the HIV life cycle would such a drug inhibit?
A)Synthesis of double stranded DNA
B)Virus assembly
C)Virus budding
D)Integration into the host chromosome
Q2) The virus that causes chickenpox can also cause ______ decades later when it switches from the latent state and starts making new viral particles.
A)shingles
B)herpes
C)cold sores
D)mononucleosis
Q3) The HIV genome is especially prone to mutation because A)it is made of DNA.
B)it is an emerging virus.
C)it is copied by reverse transcriptase, which lacks a proofreading function.
D)of the many different drugs HIV patients must take.
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19
Chapter 18: Gene Mutation and Dna Repair
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Sample Questions
Q1) HRR usually uses a sister chromatid.
A)True
B)False
Q2) The wild-type eye color of Drosophila is red. A single-base mutation can occur that produces a white eye color. What statement is correct regarding this mutation?
A)It is an example of a mutation that alters protein function
B)Individuals with white eyes have a reversion mutation
C)It would be an example of a silent mutation
D)The white eyed phenotyope is called an example of a neutral mutation.
Q3) Which is not an example of a induced mutational mechanism?
A)DNA replication errors
B)Tautomeric shifts of nucleic acid bases
C)Aberrant recombination
D)UV light
E)Transposable elements
Q4) Somatic cells are those that give rise to sperm and egg cells.
A)True
B)False
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Chapter 19: Recombination and Transposition at the
Molecular Level
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Sample Questions
Q1) Which of the following enzymes is required for a transposon to move?
A)Integrase
B)Jumpase
C)Splicase
D)Transposase
Q2) Bacteriophage \(\lambda\) inserts into a bacterial chromosome using which of the following?
A)Nucleotide excision repair
B)Endonuclease activity
C)Site-specific recombination
D)DNA gap repair
Q3) Which of the following genes was mobile in McClintock's experiments with mutable sites in corn?
A)Ds
B)C
C)Sh
D)Wx
E)All of the answers are correct
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Chapter 20: DNA Technologies
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Sample Questions
Q1) The isolation and copying of a gene, usually in large quantities is called gene cloning.
A)True
B)False
Q2) Cloned genes may be mutated outside of a cell by a process called in vitro site-directed mutagenesis.
A)True
B)False
Q3) What is the origin of restriction endonucleases?
A)They are part of DNA repair mechanisms in eukaryotic cells
B)They are a defense mechanism against viruses in bacteria
C)They are replication enzymes of yeast
D)They are transposable elements of Drosophila
Q4) The presence of a specific plasmid in a bacterial cell may be determined if the plasmid _____.
A)is exceptionally large
B)is an expression vector
C)contains pieces of a viral genome
D)contains a selectable marker
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22
Chapter 21: Biotechnology
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Sample Questions
Q1) Although Dolly was only three years old, her chromosomes had the length of a 9-10 year old sheep. Which of the following best describes why this occurred?
A)The cell lines that created Dolly were aged prematurely in the lab
B)Nonhomologous recombination
C)A mutation enhanced the rate of aging
D)Dolly was not a clone
E)The telomeres of the somatic cells that Dolly originated from were shortening
Q2) Which of the following terms represents a cell that can form any other cell of the organism?
A)Pluripotent
B)Totipotent
C)Unipotent
Q3) Which of the following can be used as a vector for gene therapy?
A)Liposomes
B)Parvoviruses
C)Adenoviruses
D)Retroviruses
E)All of the answers are correct
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23
Chapter 22: Genomics I: Analysis of DNA
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Sample Questions
Q1) In positional cloning, which method is used to identify clones that are progressively closer to a gene of interest?
A)Chromosome painting
B)Cytogenetic mapping
C)Microsatellite analysis
D)Chromosome walking
Q2) Cytogenetic mapping is accurate to within 500,000 base pairs, but not over this value.
A)True
B)False
Q3) What does physical mapping provide that the other types of genetic mapping do not?
A)Recombination distances between genes
B)Number of nucleotide base-pairs between genes
C)Relationship of the gene to specific chromosomal banding patterns
Q4) In sequencing by synthesis (SBS) methods, the sequence of a sample is directly determined as nucleotides are incorporated into a DNA strand by DNA polymerase.
A)True
B)False
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Chapter 23: Genomics II: Functional Genomics, Proteomics, and Bioinformatics
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Sample Questions
Q1) Which technique can be used to identify a protein of interest after a two-dimensional gel electrophoresis experiment?
A)DNA microarray
B)Treatment with reverse transcriptase to isolate the DNA of interest
C)BLAST analysis
D)Mass spectrometry
Q2) Gene knockouts in mice can be useful because
A)they can be used to develop models of human disease.
B)they identify DNA binding proteins
C)they limit mRNA production both from the knockout as well as the normal allele in diploids.
D)only genes that are actively transcribed in the embryo are susceptible to being knocked out.
Q3) A cluster analysis is used when reading a DNA microarray to identify genes whose expression follow a similar patterns.
A)True
B)False
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Chapter 24: Medical Genetics and Cancer
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Q1) You are working in a lab where you are studying a disease that is known to be caused by a single nucleotide change, although the effect this change ultimately has on the protein's structure/function is unknown. You have DNA samples from multiple patients that you suspect of having this disease. What is the most efficient way to test the samples for the relevant mutation?
A) Western blotting
B) DNA sequencing
C) Karyotyping
D) Amniocentesis
Q2) Herceptin is a drug that is given to treat certain breast cancers. However, it is most effective on tumors that are overexpressing HER2. Therefore, patients are tested for HER2 overexpression before being given Herceptin. This is an example of A)concordance.
B)a haplotype.
C)personalized medicine.
D)karyotyping.
Q3) DNA damage is sensed by E2F at the G<sub>1</sub> and G<sub>2</sub> checkpoints.
A)True
B)False
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Chapter 25: Developmental Genetics
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Sample Questions
Q1) The model organism for the study of plant development is _____.
A)Drosophila melanogaster
B)C.elegans
C)Xenopus laevis
D)Arabidopsis thaliana
Q2) Homeotic genes activate other genes that determine the ____________ of each segment.
A) segment
B) parasegment
C) morphological characteristics
D) zygotic
Q3) A
C.elegans with a heterochronic mutation in lin-14 will lay eggs normally.
A)True
B)False
Q4) What gene in humans prevents male development?
A)SRY
B)DAX1
C)SOX9
D)SXL
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Chapter 26: Population Genetics
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Sample Questions
Q1) Which of the following is true regarding a balanced polymorphism?
A)The frequency of alleles is not changing over time
B)The homozygous condition for the alleles is not advantageous to the organism
C)The population (or species) occupies a heterogeneous environment
D)An example in humans is sickle-cell anemia
E)All of the answers are correct
Q2) If the allele frequency of the dominant allele is 0.4, what value is used for the term p<sup>2</sup> in the equation p<sup>2</sup> + 2pq + q<sup>2</sup> = 1?
A)0.4
B)0.2
C)0.16
D)16
Q3) Horizontal gene transfer is limited to between prokaryotic bacteria of the same species.
A)True
B)False
Q4) New genetic variation in a population is a critical aspect of microevolution.
A)True
B)False
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Chapter 27: Quantitative Genetics
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Sample Questions
Q1) What is the standard deviation for the mother's and daughter's heights?
A)Mothers: 6.07 Daughters: 4.6
B)Mothers: 5.07 Daughters: 4.6
C)Mothers: 6.07 Daughters: 5.6
D)Mothers: 4.07 Daughters: 4.6
Q2) In an experiment two inbred strains are mated to each other and the offspring demonstrate heterosis. The offspring (F<sub>1</sub>'s) are crossed to each other and a ratio is obtained where there are 9 individuals that demonstrate heterosis and 7 that are similar to the original parental generation. What is this most likely a demonstration of?
A)Dominance hypothesis
B)Overdominance hypothesis
C)Cannot tell from the information given.
D)That there is a significant environmental interaction in phenotypic development
Q3) Many organisms used in modern agriculture are a result of artificial selection.
A)True
B)False
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Chapter 28: Evolutionary Genetics
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Sample Questions
Q1) It is currently believed that apple maggot flies are undergoing a divergence into two separate species. Two hundred years ago these maggot flies laid their eggs only on the hawthorn fruit, but after apples were introduced in the Americas, some maggot flies started laying their eggs on apples. Today, females generally lay their eggs on the type of fruit they grew up in, and male flies end up mating on the type of fruit they grew up in. Therefore hawthorn flies mate with hawthorn flies and apple flies mate with apple flies. If genetic changes between the hawthorn maggot flies and the apple maggot flies continue until the flies are different species, this would be an example of
A) allopatric speciation.
B) parapatric speciation.
C) sympatric speciation.
Q2) Researchers who study molecular evolution often analyze DNA sequences using computer programs which identify homologous sequences.
A)True
B)False
Q3) Homologous genes are derived from the same ancestral gene.
A)True
B)False
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