Genetic Analysis
Midterm Exam
Course Introduction
Genetic Analysis is a course designed to introduce students to the principles and techniques used to study genes and genomes. The course explores Mendelian and non-Mendelian inheritance, the molecular basis of genetic variation, and the tools used to map, identify, and manipulate genes in model organisms and humans. Emphasis is placed on how genetic analysis informs our understanding of biological processes, disease mechanisms, and biotechnology. Students will engage with classical and contemporary approaches, including linkage analysis, genome-wide association studies, gene editing technologies, and bioinformatics. The course combines theoretical concepts with practical applications to equip students with the foundational knowledge required for advanced studies in genetics and related fields.
Recommended Textbook
Concepts of Genetics Books a la Carte Edition 11th Edition by William S. Klug
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Chapter 1: Introduction to Genetics
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Q1) What term is applied to a variety of projects whereby genome sequences are deposited in databases for research purposes?
Answer: genomics
Q2) List the two relatively complex processes in which genetic information is converted into functional products.
Answer: transcription and translation
Q3) Name two individuals who provided the conceptual basis for our present understanding that genes are on chromosomes.
Answer: Walter Sutton and Theodor Boveri
Q4) What is a mutation?
Answer: A mutation is an inherited change in a gene.
Q5) What does the term genetics mean?
Answer: Genetics is a subdiscipline of biology concerned with the study of heredity and variation at the molecular,cellular,developmental,organismal,and populational levels.
Q6) What represents an organism's genome?
Answer: An organism's genome can be defined as the complete haploid DNA content of an organism.
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Chapter 2: Mitosis and Meiosis
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Q1) Name two evolutionarily significant benefits of meiosis that are not present in mitosis.
Answer: reshuffling of homologous chromosomes and crossing over
Q2) Electron microscopy of metaphase chromosomes demonstrated various degrees of coiling.What was the name of the model that depicted this process?
A) folded-fiber
B) double-stranded
C) chromatid folding
D) packing
E) condensation
Answer: A
Q3) In which stage of the cell cycle is G0 located?
Answer: G1
Q4) The horse (Equus caballus)has 32 pairs of chromosomes,whereas the donkey (Equus asinus)has 31 pairs of chromosomes.How many chromosomes would be expected in the somatic tissue of a mule?
Answer: 63
Q5) After which meiotic stage (meiosis I or II)would one expect monads to be formed?
Answer: meiosis II
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Chapter 3: Mendelian Genetics
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Q1) In a Chi-square test,as the value of the ² increases,the likelihood of rejecting the null hypothesis ________.[one word]
Answer: increases
Q2) Mendel's Law of Segregation is supported by a 1:1 testcross ratio.
A)True
B)False
Answer: True
Q3) The fundamental Mendelian process that involves the separation of contrasting genetic elements at the same locus would be called ________.
A) segregation
B) independent assortment
C) continuous variation
D) discontinuous variation
E) dominance or recessiveness
Answer: A
Q4) Assuming a typical monohybrid cross in which one allele is completely dominant to the other,what ratio is expected if the F s are crossed?
Answer: 3:1
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Chapter 4: Extensions of Mendelian Genetics
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Q1) What term is used to express the idea that several genes exert influence over the same characteristic?
A) coextension
B) co-adhesion
C) terminal interaction
D) gene interaction
E) transformation
Q2) Many of the color varieties of summer squash are determined by several interacting loci:
AA or Aa gives white,aaBB or aaBb gives yellow,and aabb produces green.Crosses among heterozygotes give a 12:3:1 ratio.What type of gene interaction would account for these results?
Q3) What distinguishes sex-limited from sex-influenced inheritance?
Q4) Typically,when one wishes to represent a gene,the symbol used is _________.
A) in italics
B) in all lowercase letters
C) in all upper case letters
D) in bold print
E) underlined
Q5) Can females display pattern baldness?
6
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Chapter 5: Chromosome Mapping in Eukaryotes
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Q1) In the fruit fly,Drosophila melanogaster,a spineless (no wing bristles)female fly is mated to a male that is claret (dark eyes)and hairless (no thoracic bristles).Phenotypically wild-type F female progeny were mated to fully homozygous (mutant)males,and the following progeny (1000 total)were observed: \( \begin{array}{lr}\text { Phenotypes } & \text { Number } \\ \text { spineless } & 321 \\ \text { wild } & 38 \\ \text { claret, spineless } & 130 \\ \text { claret } & 18 \\ \text { claret, hairless } & 309 \\ \text { hairless, claret, spineless } & 32 \\ \text { hairless } & 140 \\ \text { hairless, spineless } & 12\end{array} \)
a) Which gene is in the middle?
b) With respect to the three genes mentioned in the problem,what are the genotypes of the homozygous parents used in making the phenotypically wild-type F heterozygote?
c) What are the map distances between the three genes? A correct formula with the values "plugged in" for each distance will be sufficient.
d) What is the coefficient of coincidence? A correct formula with the values "plugged in" will be sufficient.
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Chapter 6: Genetic Analysis and Mapping in Bacteria and Bacteriophages
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Q1) What is meant by the term cotransformation?
Q2) What are the roles of the recBCD genes?
Q3) What is the role of the F factor in bacterial recombination?
Q4) Explain what is meant by the term heteroduplex in the context of bacterial transformation.
Q5) What is a bacteriophage?
Q6) Compare and contrast bacteriophage lysis and lysogeny.
Q7) Name two forms of recombination in bacteria.
A) lytic and lysogenic
B) auxotrophic and prototrophic
C) conjugation and transduction
D) mixed and generalized
E) insertion and replication
Q8) In a bacterial cross in which the donor (Hfr)is a b and the recipient strain (F )is a b ,it is expected that recombinant bacteria will all be a b .
A)True
B)False
Page 8
Q9) How does an auxotroph differ from a prototroph?
Q10) What is a significant difference between a lytic and a lysogenic cycle?
Q11) Present the general structural features of a plasmid and give an example.
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Chapter 7: Sex Determination and Sex Chromosomes
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Q1) What particular karyotype was at one time considered to be related to criminal predisposition?
Q2) Under what condition might a human female have the XY sex chromosome complement?
Q3) Glucose-6-phosphate dehydrogenase (G6PD)deficiency is inherited as an X-linked recessive gene in humans.A woman whose father suffered from G6PD marries a normal man.
a) What proportion of their sons is expected to be G6PD?
b) If the husband were not normal,but were G6PD deficient,would you change your answer in part (a)?
Q4) A cross is made between a female calico cat and a male cat having the gene for black fur on his X chromosome.What fraction of the offspring would one expect to be calico?
Q5) Data produced by C.Bridges in the early part of this century indicate that sex in Drosophila is determined by ________.
Q6) Individuals have been identified who have two different karyotypes,such as 45,X/46,XY or 45,X/46,XX.Such individuals are called ________.
Q7) Describe an experiment in which transgenic mice were used to identify the male-determining region of the Y chromosome.
Page 10
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Chapter 8: Chromosome Mutations: Variation in Number and Arrangement
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Q1) Provide an example of gene redundancy that occurs in both eukaryotes and prokaryotes.
Q2) rDNA in eukaryotes is typically redundant.
A)True
B)False
Q3) Assume that an organism has a diploid chromosome number of 14.There would be 28 chromosomes in a tetraploid.
A)True
B)False
Q4) Assume that an organism has a haploid chromosome number of 7.There would be 14 chromosomes in a monoploid individual of that species.
A)True
B)False
Q5) Deletions are chromosomal aberrations in which some portion of a chromosome is missing.Describe a method using Drosophila deletions to determine the actual,physical location of a gene.
Q6) Describe Bar mutations in Drosophila melanogaster.
Q7) In what way might gene duplication play a role in evolution?
Q8) Name two methods used in genetic prenatal diagnostic testing in humans. Page 11
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Chapter 9: Extranuclear Inheritance
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Q1) What is the name of a form of extrachromosomal inheritance that is due to transmission of symbiotic or parasitic microorganisms?
Q2) The genes for light eyes (lt; light)and straw bristles (stw; straw)are tightly linked on chromosome 2 in Drosophila melanogaster.The Malpighian tubes of lt larvae and adults are maternally affected in that Malpighian tubes of lt/lt organisms,whose mothers were lt / and have more yellow pigment than those from lt/lt mothers.There is no maternal effect associated with the straw locus.Give the phenotypes of the offspring from the following crosses.
\(\begin{array}{lll}
& \underline{\text { Female }} & \underline{\text { Male }} \\
\text { Cross \#1: } & l t \text { stw/lt stw } & l t^{+} \text {stw } w^{+} / l t \text { stw } \\
\text { Cross \#2: } & l t^{+} s t w / l t \text { stw } & l t \text { stw } w^{+} / l t s t w \\
\text { Cross \#3: } &l t^{+} s t w w^{+} / l t \text { stw } & \text { lt stw/lt stw } \end{array}\)
Q3) Which three classes of macromolecules are encoded by mtDNA?
Q4) In what way do mitochondrial mutations influence phenotype?
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Chapter 10: DNA Structure and Analysis
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Q1) Consider the structure of double-stranded DNA.When DNA is placed into distilled water,it denatures; however,by adding NaCl,the DNA renatures.Why?
Q2) (a)Assume that A + T/G + C equals 0.5 in one strand of DNA.What is the ratio of these bases in the complementary strand? (b)If A + G/T + C equals 0.5 in one strand,what is the ratio of these bases in the complementary strand?
Q3) In the 1860s,a Swiss chemist,Friedrich Miescher,isolated an acidic substance from cell nuclei.What was the name of this substance,and what was its significance?
Q4) Regarding the structure of DNA,the covalently arranged combination of a deoxyribose and a nitrogenous base would be called a(n)________.
A) nucleotide
B) ribonucleotide
C) monophosphate nucleoside
D) oligonucleotide
E) nucleoside
Q5) DNA has no sulfur,and proteins have no phosphorus.
A)True
B)False
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Chapter 11: DNA Replication and Recombination
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Q1) Describe the DNA base sequence arrangement at the end of the Tetrahymena chromosome and the resolution of DNA replication at the end of a linear DNA strand.
Q2) Each of the following terms refers to the replication of chromosomes.Describe the role (relationship)of each in (to)chromosome replication.
(a)Okazaki fragment
(b)Lagging strand
(c)Bidirectional
Q3) An endonuclease is involved in removing bases sequentially from one end of DNA or the other.
A)True
B)False
Q4) Telomerase is an RNA-containing enzyme that adds telomeric DNA sequences onto the ends of linear chromosomes.
A)True
B)False
Q5) A characteristic of aging cells is that their telomeres become shorter.
A)True
B)False
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Chapter 12: DNA Organization in Chromosomes
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Q1) In human chromosomes,satellite DNA sequences of about 170 base pairs in length are present in tandem arrays of up to 1 million base pairs.Found mainly in centromere regions,these DNA sequences are called ________.
A) telomeres
B) primers
C) alphoid families
D) euchromatic regions
E) telomere-associated sequences
Q2) In addition to highly repetitive and unique DNA sequences,a third category of DNA sequences exists.What is it called,and what types of elements are involved in it?
A) composite DNA; telomeres and heterochromatin
B) dominant DNA; euchromatin and heterochromatin
C) multiple gene family DNA; hemoglobin and 5.0S RNA
D) moderately repetitive DNA; SINEs, LINEs, and VNTRs
E) permissive DNA; centromeres and heterochromatin
Q3) Chromosomal regions that represent evolutionary vestiges of duplicated copies of genes that have underdone sufficient mutations to render them untranscribable are called ________.
Q4) What similarities do bacterial chromosomes have with eukaryotic chromosomes?
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Chapter 13: The Genetic Code and Transcription
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Q1) Regarding the efficient initiation of transcription by RNA polymerase II,which specific "upstream" signals appear to be involved?
Q2) Describe how the sigma subunit (factor)of E.coli RNA polymerase participates in transcription.
Q3) From the late 1950s to the mid-1960s,numerous experiments using in vitro cell-free systems provided information on the nature of the genetic code.Briefly outline significant experiments in the determination of the genetic code.
Q4) What is meant by punctuation in terms of the genetic code?
Q5) RNA processing occurs when amino acids are removed from nascent proteins. A)True
B)False
Q6) In which cellular organelle do the three posttranscriptional modifications often seen in the maturation of mRNA in eukaryotes occur?
A) nucleus
B) cytoplasm
C) mitochondrion
D) lysosome
E) Golgi
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Chapter 14: Translation and Proteins
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Q1) Prokaryotic and eukaryotic ribosomes are structurally and chemically identical.
A)True
B)False
Q2) Which class of protein functions primarily by lowering the energy of activation during a reaction?
Q3) Three major types of RNAs are mRNA,rRNA,and tRNA.For each of the conditions below,predict the consequences in terms of the population of proteins being synthesized in a particular cell.What qualitative and quantitative changes,if any,are expected in the individual protein involved (if one is involved)and in the population of proteins in this cell?
(a)An acridine dye-induced mutation (adds or deletes single bases in DNA)leads to an mRNA for one protein-producing gene.The condition is heterozygous in the involved cell.
(b)A deletion (homozygous)that removes approximately half of the rRNA genes.
Q4) The term peptidyl transferase relates to ________.
A) base additions during mRNA synthesis
B) peptide bond formation during protein synthesis
C) elongation factors binding to the large ribosomal subunit
D) discontinuous strand replication
E) 5 capping of mRNA
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Chapter 15: Gene Mutation,dna Repair,and Transposition
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Q1) Apurinic sites (AP sites)involve a spontaneous loss of a(n)________ in an intact double-helix DNA molecule.
Q2) Conditional mutations are more likely to result from a mutation caused by which of the following alterations to the coding region of a gene?
A) four bases added within a short region of a gene
B) base addition
C) X-rays
D) deletion
E) tautomeric shift
Q3) What are LINES?
Q4) Under certain conditions,the rate of mutation of a particular gene may be determined in humans.What three properties of the mutation would favor the most direct determination of mutation rate in humans?
Q5) Three human disorders-fragile X syndrome,myotonic dystrophy,and Huntington disease-are conceptually linked by a common mode of molecular upset.Describe the phenomena that link these disorders.
Q6) How were insertion sequences (IS elements)first discovered?
Q7) What is meant by the term photoreactivation repair?
Page 19
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Chapter 16: Regulation of Gene Expression in Prokaryotes
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Q1) What symbols are used to describe constitutive mutations at specific regions of the lac regulatory system?
Q2) State whether the following statement is true or false,then give your reasoning.The terminating "hairpin" loop occurs in the trp operon when sufficient tryptophan is present.
A)True B)False
Q3) Present an overview of prokaryotic regulation in terms of growth efficiency.
Q4) The cAMP-CAP complex and RNA polymerase bind more efficiently to the lac operon together than either does alone.What term is applied to this increased efficiency of binding?
Q5) Attenuation is known to occur in the lac operon. A)True B)False
Q6) Regarding the lactose utilization system in E.coli,a constitutive mutant is one in which the three enzymes are produced regardless of the presence or absence of lactose.
A)True B)False
Q7) Describe what is meant by a gratuitous inducer.Give an example.
Page 20
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Chapter 17: Regulation of Gene Expression in Eukaryotes
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Q1) UASs (upstream activating sequences)are DNase hypersensitive.This means that
A) a UAS is constitutively open
B) more than one strand of DNA exists in each UAS
C) each UAS is likely to be single-stranded
D) each UAS has more histone-binding sites than non-UAS sites
E) any given UAS is composed of a double-stranded site with a bound repressor
Q2) Approximately 5% of the cytosine residues are methylated in the genome of any given eukaryote.In what way is DNA methylation related to genetic regulation?
Q3) Transcription factors appear to be important molecules relating to the regulation of gene activity.Two general classes of transcription factors exist in eukaryotes.Briefly describe each.
Q4) When transcription factors interact with DNA,is the resulting genetic control typically positive or negative?
Q5) Alternative RNA processing can result in different mRNAs that start with different exons.
A)True
B)False
Q6) Describe how nucleosomes may influence gene transcription.
Page 21
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Chapter 18: Developmental Genetics
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Q1) Caenorhabditis elegans is extremely useful as an experimental organism because it has relatively few cells,and,for the most part,each embryonic cell's fate is developmentally fixed.
A)True
B)False
Q2) Mutations that eliminate a contiguous region in the Drosophila embryo's segmentation pattern are called ________.
A) homeodomains
B) gap genes
C) compartment genes
D) linkage genes
E) segment genes
Q3) Determination is the process whereby a cell's eventual developmental fate is set.
A)True
B)False
Q4) Differentiation is the process whereby a cell's determined state is expressed.
A)True
B)False
Q5) How does determination relate temporally to differentiation?
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Chapter 19: Cancer and Regulation of the Cell Cycle
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Q1) As more is learned about cancer,it has become clear that cancer,with few exceptions,has no genetic basis.
A)True
B)False
Q2) There are several checkpoints in the mitotic cell cycle.All occur in the S phase.
A)True
B)False
Q3) Mutant versions of genes that are normally involved in promoting the cell cycle are known as ________.
A) tumor suppressors
B) proto-oncogenes
C) oncogenes
D) malignant genes
E) attenuators
Q4) Differentiate among the following types of genes: tumor-suppressor gene,proto-oncogene,and oncogene.
Q5) A tumor-suppressor gene normally functions to suppress cell division.
A)True
B)False
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Chapter 20: Recombinant DNA Technology
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Q1) In the context of molecular genetics,reverse transcription PCR (RT-PCR)refers to
A) assembling a DNA sequence from an mRNA
B) assembling an RNA sequence from a DNA sequence
C) translating in the 3 to 5 direction
D) transcribing first, then translating
E) making an amino acid sequence from a DNA sequence
Q2) During a PCR,heat is provided to inactivate the polymerase enzyme.
A)True
B)False
Q3) What is the fundamental purpose of creating a knockout organism?
Q4) A restriction map provides the location of sites cleaved by restriction enzymes. A)True B)False
Q5) The function of a ddNTP in DNA sequencing is to methylate guanine. A)True
B)False
Q6) What is a popular approach that is often used to introduce the targeting vector into cells?
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Q7) In the context of recombinant DNA technology,what is meant by the term vector?
Chapter 21: Genomics, bioinformatics, and Proteomics
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Q1) Which two factors contribute significantly to the wide ranges of genome size among eukaryotes?
Q2) One major difference between prokaryotic and eukaryotic genes is that eukaryotic genes can contain internal sequences,called ________,that get removed in the mature message.
Q3) The dog (Canis familiaris)genome has recently been sequenced.About how many of the dog's genes are shared with humans?
Q4) A bacterial polygenic transcription unit ________.
A) contains information for one protein product
B) contains information for more than one protein product
C) is capped at the 5'end and carries a poly-A tail at the 3'end
D) is void of start (AUG) and termination (UAA, UGA, UAG) triplets
E) None of the answers listed is correct.
Q5) What is meant by the term low gene density? Give an example of an organism with low gene density.
Q6) What is comparative genomics?
Q7) What appears to be the range of the number of protein-coding genes per genome in eukaryotes?
Q8) What is ELSI?
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Chapter 22: Applications and Ethics of Genetic Engineering and Biotechnology
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Q1) One of the problems associated with the generation of transgenic plants is that the ecological parameters of many plants are not completely understood.
A)True
B)False
Q2) Rational drug design involves the synthesis of specific chemical substances that affect specific gene products.
A)True
B)False
Q3) Which term is commonly used to describe the production of valuable proteins in genetically modified plants and animals?
A) animal farming
B) tuna farming
C) biopharming
D) culturing
E) genetic production
Q4) What term is used to describe the new field engaged to producing more specific,effective and personally customized drugs?
Q5) Briefly describe what is meant by the term edible vaccine.
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Chapter 23: Quantitative Genetics and Multifactorial Traits
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Q1) How would the use of a large series of monozygotic and dizygotic twins enhance studies on the genetic basis of human behavior?
Q2) Polygenes are involved in determining continuously varying or multiple-factor traits.
A)True
B)False
Q3) Define the term broad-sense heritability (H² .What is implied by a relatively high value of H²? Express aspects of broad-sense heritability in equation form
Q4) What is the term given to a random subset of individuals who are selected for measurement in a particular study?
Q5) Name two mammalian traits with relatively high heritability (h²)values and two with relatively low h² values.
Q6) When a trait is polygenic,but distinguished from continuous and meristic traits by having a small number of discrete classes,it is said to be a(n)________ trait.
Q7) List at least two statistical terms commonly used in the analysis of quantitative traits.
Q8) Name the three components of phenotypic variance.
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Chapter 24: Neurogenetics
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Q1) What is a major problem that arises in the study of the genetic basis of human behavior?
A) Memories of individuals are unreliable.
B) People are too short lived.
C) Behaviors are difficult to define objectively.
D) The environment plays no role in behavioral expression.
E) The environment is the only factor that determines human behavior.
Q2) How are electrical impulses propagated from neuron to neuron?
Q3) Recent research using gene expression profiles indicates that schizophrenia and autism spectrum disorders are ________.
A) like opposite sides of the same coin
B) identical at the molecular level
C) completely unrelated
D) likely to be caused by the same dominant gene
E) likely to be caused by the same recessive gene
Q4) Mitochondrial ribosomes are responsible for determining the learning and memory development in Drosophila.
A)True
B)False
Q5) Why is cyclic AMP considered important in behavioral studies?
Page 28
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Chapter 25: Population and Evolutionary Genetics
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Q1) In a population that meets the Hardy-Weinberg equilibrium assumptions,81% of the individuals are homozygous for a recessive allele.What percentage of the individuals would be expected to be heterozygous for this locus in the next generation?
Q2) A number of mechanisms operate to maintain genetic diversity in a population.Why is such diversity favored?
A) Homozygosity is an evolutionary advantage.
B) Diversity leads to inbreeding advantages.
C) Genetic diversity may better adapt a population to inevitable changes in the environment.
D) Greater genetic diversity increases the chances of haploidy.
E) Genetic diversity helps populations avoid diploidy.
Q3) What is the original source of genetic variation in a population? Which natural factors affect changes in this original variation?
Q4) List at least three factors that change gene frequencies in populations.
Q5) What single event is probably common to all occurrences of speciation?
Q6) In a population of 10,000 individuals,where 3600 are MM,1600 are NN,and 4800 are MN,what are the frequencies of the M alleles and the N alleles?
Q7) What does the variable 2pq represent?
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