Advanced Genetics Exam Review
Course Introduction
Advanced Genetics delves into the molecular mechanisms and principles governing hereditary transmission, gene function, and genome organization. The course covers genetic analysis at the classical, molecular, and genomics level, including Mendelian and non-Mendelian inheritance, genetic linkage, recombination, mutation, and epigenetic regulation. Students will explore advanced topics such as quantitative genetics, population genetics, genetic mapping, and the applications of modern genetic technologies like CRISPR and next-generation sequencing. Emphasis is placed on experimental design, interpretation of genetic data, and the ethical considerations surrounding genetic research and biotechnology.
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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Sample Questions
Q1) Complementarity in a genetic sense refers to the polymerization of nucleotides in DNA.
A)True
B)False
Answer: False
Q2) What is the term given to the theory that put forth the idea that living organisms could arise by incubating nonliving components?
A) spontaneous generation
B) natural selection
C) evolution
D) preformation
E) collective combination
Answer: A
Q3) Bioinformatics is a discipline involved in the development of both hardware and software for processing,storing,and retrieving nucleotide and protein data.
A)True
B)False
Answer: True
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Chapter 2: Mitosis and Meiosis
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Q1) After which meiotic stage (meiosis I or II)would one expect monads to be formed?
Answer: meiosis II
Q2) 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
Q3) Trisomy 21,or Down syndrome,occurs when there is a normal diploid chromosomal complement of 46 chromosomes plus one (extra)chromosome #21.Such individuals therefore have 47 chromosomes.Assume that a mating occurs between a female with Down syndrome and a normal 46-chromosome male.What proportion of the offspring would be expected to have Down syndrome? Justify your answer.
Answer: One-half of the offspring would be expected to have Down syndrome because of 2 × 1 segregation of chromosome #21 at anaphase I.
Q4) A chromosome may contain one or two chromatids in different phases of the mitotic or meiotic cell cycle.
A)True
B)False
Answer: True
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Chapter 3: Mendelian Genetics
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Sample Questions
Q1) How many kinds of gametes will be expected from an individual with the genotype PpCcTTRr?
Answer: 8
Q2) Which phenotypic ratio is likely to occur in crosses of two completely dominant,independently segregating gene pairs when both parents are fully heterozygous?
Answer: 9:3:3:1
Q3) What is the probability of flipping a penny and a nickel and obtaining one head and one tail?
Answer: 1/2 (apply the "sum law")
Q4) How many different kinds of gametes can be produced by an individual with the genotype AABbCCddE Ff?
Answer: 2³ = 8
Q5) Mendel's discoveries were well received and understood by his contemporaries. A)True B)False
Answer: False
Q6) Assuming independent assortment,what proportion of the offspring of the cross will have the aabbccdd \[A a B b C c D d \times A a b b C C d d\] genotype?
Answer: zero
Page 5
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Chapter 4: Extensions of Mendelian Genetics
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Sample Questions
Q1) How many different alleles can a gene have?
Q2) With incomplete dominance,a likely ratio resulting from a monohybrid cross would be ________.
A) 3:3
B) 1:2:2:4
C) 1:2:1
D) 9:3:3:1
E) 3:1
Q3) Name three modes of inheritance that are influenced by the sex of individuals.
Q4) With which of the following would hemizygosity most likely be associated?
A) codominance
B) incomplete dominance
C) trihybrid crosses
D) X-linked inheritance
E) sex-limited inheritance
Q5) Genomic imprinting occurs when one allele converts another.
A)True
B)False
Q6) Provide an example of sex-influenced inheritance.
Q7) Can females display pattern baldness?
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Chapter 5: Chromosome Mapping in Eukaryotes
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Q1) Under what circumstance might two loci be on the same chromosome but behave as if independently assorting in crosses?
Q2) Based on the classic experiments of Creighton and McClintock with maize,crossing over involves a physical exchange between chromatids.What particular chromosomal characteristic allowed their experiments to succeed?
A) colored bands along the lengths of a chromosome
B) an extra chromosome
C) a missing chromosome
D) three chromosomes with identical structure
E) a chromosome with a unique cytological marker
Q3) Provide a brief definition for positive interference.
Q4) The phenomenon in which one crossover decreases the likelihood of crossovers in nearby regions is called A) chiasma.
B) negative interference.
C) reciprocal genetic exchange.
D) positive interference.
E) mitotic recombination.
Q5) What are two commonly used DNA landmarks for mapping human genes?
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Chapter 6: Genetic Analysis and Mapping in Bacteria and Bacteriophages
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Q1) When a bacteriophage genome incorporates itself into the chromosome of the host,that phage genome is referred to as a(n)________.
Q2) What is a bacteriophage?
Q3) Explain the composition and use of minimal medium in the study of bacterial genetics.
Q4) Name the term used to describe the phenomenon in which a bacteriophage genome incorporates its genome into the chromosome of the host.
Q5) Lysogeny is most likely associated with transduction. A)True B)False
Q6) Describe how different strains of E.coli can reveal different linkage arrangements of genes in Hfr crosses.
Q7) What experimental observation demonstrated that genes are involved in the integration of foreign DNA into the bacterial chromosome?
Q8) What is a significant difference between a lytic and a lysogenic cycle?
Q10) Name three forms of recombination in bacteria. Page 8
Q9) Bacteria that are in a particular physiological state to become transformed are called ________.
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Chapter 7: Sex Determination and Sex Chromosomes
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Q1) Assuming a normal number of autosomes,what would be the sex of the following: XXY mouse,XXY Drosophila?
Q2) In Drosophila,the sex of a fly with the karyotype XO:2A is ________.
Q3) For an individual with the XXY chromosomal composition,the expected number of Barr bodies in interphase cells is ________.
A) variable
B) one
C) two
D) three
E) zero
Q4) A color-blind,chromatin-positive male child (one Barr body)has a maternal grandfather who was color blind.The boy's mother and father are phenotypically normal.Construct and support (using appropriately labeled diagrams)a rationale whereby the chromosomal and genetic attributes of the chromatin-positive male are fully explained.
Q5) Dosage compensation is accomplished in humans by inactivation of the Y chromosome.
A)True
B)False
Q6) List three abnormalities involving numbers of X chromosomes.
Page 10
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Chapter 8: Chromosome Mutations: Variation in Number and Arrangement
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Q1) In what way might gene duplication play a role in evolution?
Q2) Nondisjunction is viewed as a major cause of aneuploidy.
A)True
B)False
Q3) 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
Q4) Translocations may be pericentric or paracentric.
A)True
B)False
Q5) Inversions suppress crossing over by providing a chemical imbalance because of breakpoints within certain genes.
A)True
B)False
Q6) Assume that a species has a diploid chromosome number of 24.The term applied to an individual with 36 chromosomes would be triploid.
A)True
B)False
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Chapter 9: Extranuclear Inheritance
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Q1) Direction of shell coiling in Lymnaea peregra is strongly and most directly influenced by_______.
A) the genotype of the mother
B) the genotype of the father
C) the phenotype of the mother
D) the phenotype of the father
E) the genotype of the embryo itself
Q2) Through the study of mitochondrial disorders,scientists have suggested a link between the decline of mitochondrial function and aging.What process appears to be involved in this suspected phenomenon?
A) accumulation of sporadic mutations in the nuclear genome
B) decline of mutations in the nuclear genome
C) accumulation of mutations in the mtDNA
D) recombination of mtDNA and nuclear DNA
E) recombination among mtDNAs of different mitochondria
Q3) What is the name of a form of extrachromosomal inheritance that is due to transmission of symbiotic or parasitic microorganisms?
Q4) Describe the molecular and transmission characteristics of Leber's hereditary optic neuropathy (LHON).
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Chapter 10: DNA Structure and Analysis
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Q1) G and C are present in both DNA and RNA.
A)True
B)False
Q2) What are the two major components of the Tobacco Mosaic Virus?
A) RNA and DNA
B) DNA and protein
C) RNA and protein
D) lipids and nucleic acids
E) carbohydrates and nucleic acids
Q3) In an analysis of the nucleotide composition of double-stranded DNA to see which bases are equivalent in concentration,which of the following would be true?
A) A = C
B) A = G and C = T
C) A + C = G + T
D) A + T = G + C
E) A = G and C = T and A + C = G + T are both true.
Q4) 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?
Q5) List two major differences between RNA and DNA at the level of the nucleotide.
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Chapter 11: DNA Replication and Recombination
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Q1) A nucleosome is a structure associated with the nuclear membrane.It helps maintain a stable relationship between the extracellular matrix and the membrane itself.
A)True
B)False
Q2) Given that the origin of replication is fixed in E.coli,what signals the location of the origin?
Q3) Given that the nature of DNA replication in eukaryotes is not as well understood as in prokaryotes,(a)present a description of DNA (chromosome)replication as presently viewed in eukaryotes and (b)state the differences known to exist between prokaryotic and eukaryotic DNA replication.
Q4) A characteristic of aging cells is that their telomeres become shorter.
A)True B)False
Q5) The complex of proteins that is involved in the replication of DNA is called a(n)________.
Q6) Meselson and Stahl determined that DNA replication in E coli is semiconservative.What additive did they initially supply to the medium in order to distinguish "new" from "old" DNA?
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Chapter 12: DNA Organization in Chromosomes
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Q1) In situ hybridization allows one to "visualize" the location of labeled RNA or DNA in a tissue or cell.
A)True
B)False
Q2) 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
Q3) Each human contains an identical set of VNTRs.
A)True
B)False
Q4) What similarities do bacterial chromosomes have with eukaryotic chromosomes?
Q5) What are histones,and how are they arranged in nucleosomes?
Q6) The E.coli chromosome is circular and double-stranded DNA.
A)True
B)False
Page 15
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Chapter 13: The Genetic Code and Transcription
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Sample Questions
Q1) Describe the direction of information flow in living systems.Use appropriate,scientific terms in your description.
Q2) Which of the following contains the three posttranscriptional modifications often seen in the maturation of mRNA in eukaryotes?
A) 5 -capping, 3 -poly(A) tail addition, splicing
B) 3 -capping, 5 -poly(A) tail addition, splicing
C) removal of exons, insertion of introns, capping
D) 5 -poly(A) tail addition, insertion of introns, capping
E) heteroduplex formation, base modification, capping
Q3) "Breaking the genetic code" has been referred to as one of the most significant scientific achievements in modern times.Describe (in outline or brief statement form)the procedures used to break the code.
Q4) What two experimental procedures allowed deciphering of the ordered triplet assignments of the genetic code?
Q5) What is meant by punctuation in terms of the genetic code?
Q6) The finding that virtually all organisms use the same genetic code provides the basis for declaring that the code is universal.Name at least two exceptions to such universality.
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Chapter 14: Translation and Proteins
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Q1) The accompanying table is a set of experimental results relating the growth (+)of Neurospora on several media (MM = minimal medium).Based on the information provided,present the biochemical pathway and the locations of the metabolic blocks. \(\begin{array}{lccc}
\text { Strain }&& \text { Medium } \\ &\text { MM } &\mathbf{M M}+\mathbf{A} & \mathbf{M M}+\mathrm{B} \\ \hline\\
s111 & - & + & + \\
t60 & + & + & +\\
s111 & - & - & + \\ \end{array}\)
Q2) Which class of protein functions primarily by lowering the energy of activation during a reaction?
Q3) 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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Sample Questions
Q1) What is the Ames test,and how does it work?
Q2) Transposons,or jumping genes,are DNA elements that move within the genome.In which organismic groups are transposons found?
A) bacteria
B) eukaryotes
C) mammals
D) ancient bacteria
E) all organismic groups
Q3) Barbara McClintock discovered mobile elements in corn by analyzing the genetic behavior of two elements,Ds and Ac.The interplay between these two elements has become one of the most interesting stories of discovery in the field of genetics.How do Ds and Ac interact?
A) Ds causes a deletion next to the insertion site of Ac.
B) Ac causes a deletion next to the insertion site of Ds.
C) While Ds moves only if Ac is present in the genome, Ac is capable of autonomous movement.
D) The movement of Ac is dependent on two forms of Ds.
E) Both elements can move only within chromosome 9.
Q4) How was it determined that X-rays are mutagenic?
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Chapter 16: Regulation of Gene Expression in Prokaryotes
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Q1) Describe the positive control exerted by the catabolite activating protein (CAP).Include a description of catabolite repression.
Q2) Under a system of negative control,genetic expression occurs unless such expression is shut off by some form of regulator.
A)True
B)False
Q3) Within the control region of the trp operon is a section of DNA that is sensitive to levels of tryptophan in the system.What is the name of this region?
Q4) What experimental results would indicate that the mutation lacI is dominant to lacI ?
Q5) What is an allosteric molecule?
Q6) Regarding regulation of the trp operon,what might one appropriately call the amino acid tryptophan?
Q7) Describe what is meant by a gratuitous inducer.Give an example.
Q8) Certain mutations in the regulator gene of the lac system in E.coli result in maximal synthesis of the lac proteins ( -galactosidase,etc.)even in the absence of the inducer (lactose).Provide an explanation for this observation.
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Chapter 17: Regulation of Gene Expression in Eukaryotes
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Q1) Because of the imprecision of molecular joining,recombination between LV and J regions shows considerable variation.Which additional circumstance contributes to this variation?
A) transmutation
B) hypermutation
C) transfection
D) conjugation
E) transduction
Q2) Transcription in eukaryotes is generally influenced by enhancers just as in prokaryotes.
A)True
B)False
Q3) Describe the difference between a focused promoter and a dispersed promoter.
Q4) What are zinc fingers,and why are they frequently encountered in descriptions of genetic regulation in eukaryotes?
Q5) List three general pathways in which eukaryotic mRNA is typically degraded in eukaryotes.
Q6) What are the approximate positions of consensus sequences (modular elements)at the 5 end of eukaryotic genes?
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Chapter 18: Developmental Genetics
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Q1) Determination is the process whereby a cell's eventual developmental fate is set.
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) 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
Q4) Define determination and differentiation.
Q5) Provide a brief description of segment polarity genes,including their regulation and their molecular and developmental effects.
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Chapter 19: Cancer and Regulation of the Cell Cycle
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Q1) List at least three environmental agents or factors that are known to cause cancer.
Q2) Describe the major cellular and molecular events that mark the entry of mitosis from G2.
Q3) What are two properties that various types of cancer cells share?
Q4) When the normal retinoblastoma protein is dephosphorylated,it acts to suppress cell division by binding to and inactivating the E2F transcription factor.
A)True
B)False
Q5) The retinoblastoma protein (pRB),like p53,serves as a(n)________ in regulating the cell cycle.
A) tumor suppressor
B) tumor enhancer
C) up regulator
D) oncogene
E) pseudooncogene
Q6) Differentiate among the following types of genes: tumor-suppressor gene,proto-oncogene,and oncogene.
Q7) Provide a definition of cancer at the anatomical level.
Page 22
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Chapter 20: Recombinant DNA Technology
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Q1) Nucleic acid blotting is commonly used in molecular biology.Two types,Southern blots and northern blots,involve gel electrophoresis and a filter,which holds the nucleic acid.Briefly describe the procedure of "blotting" in this context and differentiate between Southern and northern blots.
Q2) The function of a ddNTP in DNA sequencing is to methylate guanine.
A)True
B)False
Q3) E.coli is a common YAC.
A)True
B)False
Q4) A common term for a plasmid or other DNA element that serves as a cloning vehicle is vector.
A)True
B)False
Q5) In recombinant DNA technology,a YAC is an enzyme isolated from a large South American,four-legged mammal.
A)True
B)False
Q6) In the context of recombinant DNA technology,what is meant by the term vector?
Page 23
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Chapter 21: Genomics, bioinformatics, and Proteomics
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Q1) Name the two strategic methods that scientists are using to sequence genomes.
Q2) Archaea (formerly known as archaebacteria)is one of the three major divisions of living organisms; the other two are eubacteria and eukaryotes.Speculate on how an organism such as Nanoarchaeum equitans with one of the smallest genomes known,about 0.5 Mb,can complete its life cycle with so little genetic material?
Q3) What is meant by the term pseudogene?
Q4) Explain the goal of the emerging discipline called systems biology.
Q5) Sequencing the dog genome has indicated that a single locus on chromosome 15 may play a major role in genetically distinguishing large dog breeds from small dog breeds.
A)True
B)False
Q6) Numerous scientists around the world have proposed to sequence 10,000 vertebrate genomes in five years.What is the name of this plan?
A) Genome 10K
B) Bigger Than Life Plan
C) 10K or Bust
D) Vertebrate Beginnings
E) Vertebrate Enlightenment
Page 24
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Chapter 22: Applications and Ethics of Genetic Engineering and Biotechnology
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Q1) Under strictly controlled conditions,a probe can be used that will hybridize only with its complementary sequence and not with other sequences that may vary by as little as one nucleotide.What are such probes called?
A) generation-specific probes
B) short, variable repeats
C) VNTRs
D) microsatellites
E) allele-specific oligonucleotides (ASOs)
Q2) A term often used to describe an organism that is a genetic mosaic,resulting from the introduction of DNA from another organism,is ________.
Q3) A DNA microarray (also called a DNA chip)can be used to ________.
A) mutate genes of interest
B) isolate genes from eukaryotic cell nuclei
C) assay protein output from a genomic database
D) trap genes that are both active and inactive
E) scan a population of nucleic acids for abundance and mutations
Q4) Generally,vaccines are used to stimulate the immune system by providing antigens of potential pathogens.What is the typical composition of a vaccine?
Page 25
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Chapter 23: Quantitative Genetics and Multifactorial Traits
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Q1) Bell-shaped distributions produced by plotting results of F and F crosses are typical of which type of inheritance?
A) multiple-factor inheritance
B) alternation of generations
C) codominance
D) incomplete dominance
E) hemizygosity
Q2) A "marker" in a genetic sense usually represents a site along a chromosome where a specific nucleotide sequence exists.What specific phrase is used when such markers are identified by restriction endonucleases and a particular set of DNA fragments is generated?
Q3) Name two human traits that would be expected to have high concordance.
Q4) The 9:3:3:1 ratio is typical of a dihybrid cross in which complete dominance and independent assortment occur.What is the dihybrid ratio with independent assortment of polygenes?
Q5) Name two mammalian traits with relatively high heritability (h²)values and two with relatively low h² values.
Q6) Provide a brief description of discontinuous inheritance and continuous inheritance.How are the two related? How are they different?
Page 26
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Chapter 24: Neurogenetics
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Q1) Huntington disease (HD)is a well-studied,autosomal dominant disorder that affects the nervous system.Symptoms usually appear after age 40,and victims usually die within 10 to 15 years after onset of the disease.It appears that at least in some cases of HD,"stutter" mutations occur.Such mutations are characterized by ________.
A) uncontrolled verbal capacity of patients
B) extra trinucleotide repeats within the HD gene
C) RNA polymerase imperfections leading to altered DNAs
D) repeated DNA polymerases generating too many coding symbols
E) links between monoamine oxidase A (MAOA) and hexokinase
Q2) 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
Q3) A transgenic mouse model now exists for Huntington disease in humans.
A)True
B)False
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Chapter 25: Population and Evolutionary Genetics
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Q1) 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?
Q2) In large random mating populations,random genetic drift is usually a significant factor in changing gene frequencies.
A)True
B)False
Q3) List at least three factors that change gene frequencies in populations.
Q4) Why are some proteins more likely than others to diverge within a species?
Q5) For a given locus,in a population with two alternative alleles,the allele frequencies p + q = 1.0.
A)True
B)False
Q6) What is meant by the equation p + q = 1.0?
Q7) Suppose that a given gene undergoes a mutation to a dominant allele such that 2 out of 100,000 offspring exhibit the new mutant phenotype.Assuming that these offspring are heterozygous,what is the mutation rate for the gene?
Q8) What does the variable 2pq represent?
Q9) What are phylogenetic trees?
Page 28
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