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Introduction
Genetics is the study of heredity and the variation of inherited characteristics in living organisms. This course introduces the fundamental concepts of gene structure, function, and regulation, as well as the molecular mechanisms underlying genetic transmission. Students will explore Mendelian and non-Mendelian inheritance, patterns of genetic variation, population genetics, and the application of genetic principles in areas such as medicine, agriculture, and biotechnology. Laboratory components may include genetic analysis, DNA extraction, and modern techniques such as PCR and gel electrophoresis to enhance understanding of genetic principles.
Recommended Textbook
Human Heredity Principles and Issues 10th Edition by Michael Cummings
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Q1) Gene therapy can best be described as ____.
A) the elimination of a defect (mutation) in a gene
B) the insertion of normal genes to act in place of mutant genes
C) the insertion of human genes into other organisms
D) the cloning of genes to produce and purify therapeutically useful proteins
E) the mapping of all human genetic information
Answer: B
Q2) The decline of the eugenics movement in the U.S. in the early 20th century resulted from ____.
A) its misuse for social and political purposes by the Nazis
B) the lack of knowledge of the cell theory
C) the lack of understanding of natural selection
D) the idea that most human traits are controlled by single genes
E) all of these
Answer: A
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Q1) The underlying problem with Gaucher diseases is ___.
A) the spontaneous breakdown of red blood cells
B) the accumulation of fat in white blood cells
C) the breakdown of the myelin sheath around nerves
D) a hypertrophied spleen
E) the lack of critical liver enzymes
Answer: B
Q2) There are 92 chromosomes in a normal human cell undergoing mitosis at the anaphase stage.
A)True
B)False
Answer: True
Q3) Ribosomes are organelles that function in ____.
A) plasma membrane selectivity
B) cellular energy production
C) synthesis of gene products
D) transport of materials throughout the cytoplasm
E) DNA replication
Answer: C
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Q1) The genetic recombination event discovered by Mendel is _______ .
Answer: independent assortment
Q2) There are four common alleles of the gene that controls human blood type.
A)True
B)False
Answer: False
Q3) Chi square tests are used to determine whether a cross has been correctly constructed and analyzed.
A)True
B)False
Answer: False
Q4) The offspring resulting from the cross of two red flowered plants are 3/4 red and 1/4 white. The most likely genotype of the red flowered plants is _____ .
A) homozygous dominant
B) heterozygous
C) homozygous recessive
D) impossible to tell from this information
Answer: B
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Q1) How would you distinguish between a trait that is X-linked dominant trait and one that is autosomal dominant?
Q2) A child is born with a lethal dominant allele. This would seem to be impossible since either parent, had they possessed this allele, would have suffered its lethal effects. What is a possible explanation?
A) The child's allele is a spontaneous mutation that neither parent had to deal with.
B) The allele could have varying expressivity and not always be lethal.
C) The allele could have delayed onset.
D) All of these are possible.
E) None of these is possible.
Q3) Human traits are controlled only by the genetic material found in the 46 chromosomes.
A)True B)False
Q4) A color-blind man has a son who is also color blind. The son inherited the condition from his ____________________.
Q5) Genetic diseases transmitted only by a mother to both sons and daughters result from ____________________ genes.
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Q1) Davenport and Davenport estimated that two genes control skin color in humans, while, according to others, as many as four different genes are involved. Why has there been so much difficulty in determining the number of genes controlling this trait?
Q2) The tall and short phenotypes in pea plants are examples of
A) polygenic traits.
B) continuous traits.
C) multifactorial traits.
D) discontinuous traits.
E) gene interaction.
Q3) The heritability of a trait can be defined as
A) the sum of all phenotypic variation in the population
B) the average amount of genetic variation in each individual
C) the proportion of variability in a population that is caused by genetic variance
D) the absolute measurement of genotypic variation in a population
E) the proportion of variability caused by the environment
Q4) ______________ twins result from a single fertilization event.
Q5) Provide evidence from a specific example that argues for a substantial role for the environment in determining IQ.
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Q1) A translocation involving chromosome 21 can result in
A) a risk for Down syndrome independent of maternal age.
B) a risk for Down syndrome dependent on paternal age.
C) no increased risk outside of maternal age.
D) lowering the risk of Down syndrome.
E) no change in the risk for Down syndrome.
Q2) Two sets of parents who have children with Down syndrome meet at a clinic. The Williams know that their son has trisomy 21. The Millers have two affected children and Mrs. Miller has had two miscarriages. Why should the Millers be more concerned about future reproductive problems than the Williams? How did Down syndrome occur in each of these families?
Q3) Studies on aneuploidies of the sex chromosomes reveal that
A) the X chromosome is not necessary for survival.
B) the Y chromosome is not necessary for survival.
C) two copies of the X chromosome are necessary for survival.
D) two copies of the Y chromosome are fatal.
E) none of these is true.
Q4) Turner syndrome is associated with severe mental retardation.
A)True
B)False
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Q1) The duct between a testis and a seminal vesicle is the ____________________.
Q2) Anhidrotic ectodermal dysplasia is the result of ____________________.
Q3) Implantation of an embryo normally has occurred by how long after fertilization?
A) 3 days
B) 6 days
C) 12 days
D) 20 days
E) 1 month
Q4) The gland that secretes fructose and prostagladins that become part of the semen is the
A) seminal vesicle.
B) bulbourethral gland.
C) prostate gland.
D) epididymus.
E) vas deferens.
Q5) Meiosis I in females is completed at ____________.
Q6) Androgen insensitivity is caused by lack of a specific ____________________ protein.
Q7) Explain how X inactivation can result in female mosaicism.
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Q8) The result of X inactivation is ____________________ between the sexes.

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Q1) ____________________ proteins function in the packaging of DNA in the chromosome.
Q2) RNA molecules have two definably different ends: a head (the 5') and a tail (the 3'). Do DNA molecules similarly have head and tail ends? Why or why not?
Q3) What role might nucleosomes play in chromosome structure? What are the dimensions of the problem in packing a diploid amount of DNA into a typical nucleus?
Q4) In Fredrick Griffith's classic experiments,
A) mice injected with strain R cells died of pneumonia.
B) mice injected with strain S cells died of pneumonia.
C) mice injected with live strain R cells and heat-killed strain S cells died of pneumonia.
D) mice injected with strain S cells, or live strain R cells and heat-killed strain S cells died of pneumonia.
E) mice injected with strain R cells, or live strain R cells and heat-killed strain S cells died of pneumonia.
Q5) Chromatin is an extraction of pure DNA.
A)True
B)False
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Q1) All the nucleotide sequences in a transcribed mRNA are used in translation.
A)True
B)False
Q2) The covalent bond attaching two amino acids is called a ____________ bond.
Q3) The sequences in mRNA that are not translated are the ____________________.
Q4) The cap on the 3' end of mRNA helps attach the mRNA to the ribosome.
A)True
B)False
Q5) How many codons do not code for any amino acid?
A) 0
B) 1
C) 2
D) 3
E) 4
Q6) A mechanism of gene regulation that controls the amount of mRNA available for translation is _____________.
Q7) ____________________ and ____________________ used Neurospora in experiments that demonstrated that mutations result in loss of enzyme activity.
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Q8) In a normal prion, most of the folding pattern is ____________.
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Q1) Show how the environment, extrauterine and intrauterine factors can influence the expression of PKU.
Q2) The symptoms of alkaptonuria result from a build-up of ____________________ in the blood.
Q3) Beta thalassemia is most often caused by
A) amino acid substitutions.
B) extended chains in beta globin.
C) lowered or absent synthesis of beta globin.
D) excessive synthesis of beta globin.
E) altered rates of oxygen transport.
Q4) The chemical compound that acts as a reactant in an enzyme mediated reaction is called a ____________.
Q5) What actually happens to the blood cells of people with sickle cell anemia that causes the cells to change their shape ("sickle")?
A) Polymerization of hemoglobin molecules into long fibers.
B) Destruction of the hemoglobin molecules.
C) Loss of hemoglobin through leaky cell membranes.
D) Attachment of phosphate groups to the hemoglobin molecules.
E) Binding of methyl groups to the heme group of the hemoglobin molecule.
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Q1) Mutation rates of human genes are usually expressed as the number of
A) nucleotides altered per gene.
B) frameshift mutations per genome.
C) mutated alleles per genome.
D) mutant births per generation.
E) mutated alleles per generation.
Q2) Frameshift mutations include nucleotide substitutions.
A)True
B)False
Q3) All chromosomally normal individuals have an equal number of autosomes from each parent.
A)True
B)False
Q4) Genomic imprinting is a phenomenon that does not violate Mendelian principles of segregation and independent assortment.
A)True
B)False
Q5) Occasionally, individuals have eyes of different colors. How would you explain this mutation? Do you think it is heritable?
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Q1) Which of the following is a characteristic of all cancers?
A) Uncontrolled cell division
B) Metastasis
C) Rapid proliferation
D) Uncontrolled cell division and metastasis only
E) All of these are characterisitic of all cancers
Q2) Chronic myelogenous leukemia is an example of a cancer caused by __________________.
Q3) The BRCA1 and BRCA2 genes both function in the process of
Q4) How might genetically-engineered human gene products be used to inhibit the action of oncogenes? What type of gene products would you try to develop as anti-oncogene compounds?
Q5) A cellular molecular pathway by which an external signal is converted into a functional response is called ________________.
Q6) Individuals have different ____________________ to environmental agents that cause cancer.
Q7) What is the role of oncogenes and tumor-suppressor genes, and how can mutations in these genes lead to cancer?
Q8) ____________________ genes normally suppress cell divisions.
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Q1) Adult cells cannot be used as the source of nuclei for cloning animals.
A)True
B)False
Q2) In DNA recombinant technology, the enzyme that acts like glue is ______________.
Q3) To find a specific DNA sequence in a genomic library, researchers employ single-stranded RNA or DNA molecules called _________.
Q4) The number of copies of a DNA sequence produced by the polymerase chain reaction depends on the number of cycles of the reaction.
A)True
B)False
Q5) In Southern blotting, DNA fragments on filters must be ____________________ so that probes can bond with them.
Q6) Plasmids are self-replicating single stranded fragments of eukaryotic DNA. A)True
B)False
Q7) Explain what restriction enzymes do to a strand of DNA and how they are used in recombinant DNA experiments.
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Q8) In recombinant DNA technology, _________ are used to cut DNA at specific sites.
Q9) The vectors most commonly used in recombinant DNA technology are
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Q1) What are some potential problems that might result from the release of genetically engineered organisms into the environment?
Q2) GAA, used to treat Pompe disease, is now synthesized by ____________.
Q3) Some states are setting up archives of DNA profiles for all convicted criminals. Should this be extended to all citizens and become part of their basic medical records?
Q4) In genetically altered mice, genes are transferred by injection into ____________________ that are ____________________ into a foster mother.
Q5) Once a gene has been cloned, it can be used for
A) disease diagnosis.
B) detecting heterozygotes in the population.
C) making biosynthetic products for commercial use.
D) all of these.
E) none of these.
Q6) Human insulin is produced in transgenic hamster cells.
A)True B)False
Q7) The most common use of DNA evidence in legal proceedings is ____________________.
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Q1) What is some of the important or useful information that can be gained from proteomics that is not available from genomics?
Q2) Frataxin, the protein involved in Friedreich ataxia, is located in cells'
Q3) It has long been noted that organisms such as humans, considered among the most complex of all organisms, have fewer genes and less DNA than some "simpler" organisms. Explain how a species can be more complex than another even though it possesses fewer genes.
Q4) The bands on chromosomes correspond to
A) gene-poor regions.
B) gene-rich regions
C) regions where specific proteins attach to the chromosomes.
D) regions actively transcribing RNA.
E) regions where genes are not transcribing RNA.
Q5) Which of the following sequences indicates the promoter region of a gene?
A) CAAT
B) UAAG
C) CTTT
D) ACAT
E) TAAC

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Q1) Enumerate the various categories of individuals who seek genetic counseling.
Q2) All newborns are screened for certain genetic disorders. Explain why this is done and why we don't do this for all genetic disorders.
Q3) What are the problems and benefits associated with presymptomatic testing for late-onset disorders such as Huntington disease?
Q4) What legal restrictions on the use of PGD are in place in the United States?
A) It has been banned across the board.
B) It can only be used to prevent implantation if the disease diagnosed has a 100 percent chance of occurring with the genotype revealed.
C) It cannot be used for sex selection.
D) It cannot be used for screening embryos to be tissue donors.
E) None of these are legal restrictions currently in place in the United States.
Q5) Blocked oviducts can be the result of STDs.
A)True
B)False
Q6) The first successful outcome of gene therapy was in a case of a young girl suffering from ____________________ who was supplied with copies of the ADR gene.
Q7) Explain why PKU is a model disease for newborn screening programs.
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Q1) ____________________ T cells secrete interleukins that activate other cells in both the cell-mediated and antibody-mediated immune responses.
Q2) Skin grafts between identical twins are more successful than grafts between more unrelated individuals. Why?
A) Identical twins share the same uterine environment.
B) Twins are exactly matched in age.
C) Identical twins have identical HLA alleles.
D) Identical twins are the same sex.
E) None of these is true.
Q3) The quick response of the immune system to a second infection is due to
A) activation of macrophage cells.
B) suppression of suppressor cells.
C) T and B memory cells.
D) high levels of antigen.
E) new cytotoxic T cells.
Q4) Juvenile diabetes results when insulin producing cells in the pancreas are destroyed by the patient's own immune system.
A)True
B)False
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Q1) People carrying less than 35 CAG trinucleotide repeats are more likely to develop Huntington disease.
A)True
B)False
Q2) Which of the following conditions is best described by a polygenic model?
A) Huntington disease
B) Lesch-Nyhan syndrome
C) Schizophrenia
D) Fragile-X syndrome
E) More than one of these
Q3) Some have proposed that alcoholism is not a specific trait but only one manifestation of a trait called "addictive personality" that would include other drug addictions and habits. What have you learned about alcoholism that would make this proposal seem reasonable? How could research on alcoholism be changed to test this hypothesis?
Q4) Give evidence that might prove that human personality could be partially inherited.
Q5) The gene associated with aggressive behavior identified in 1993 is to be linked to an enzyme called ____________________.
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Q1) How can genetics be used as a tool to reconstruct the history of the human species?
Q2) The taxonomic category that includes all bipedal primates is the ______________.
Q3) The out-of-Africa model states that Homo sapiens arose from a single population in Africa about ____________________ years ago.
Q4) Albinism is a recessive trait controlled by a single gene. If the frequency of albinos in a population is 0.25, what is the expected frequency of heterozygotes for this trait? (Hint: use the Hardy-Weinberg formula)
A) 0.25
B) 0.50
C) 0.75
D) 0.90
E) It is not possible to determine with the information provided.
Q5) The Hardy-Weinberg law is based on the assumptions that no genotype is superior to any other and that ____________________ and ____________________ are absent from a population.
Q6) Heterozygotes for the Tay-Sachs disease allele appear to have greater than normal resistance to ____________________.
Q7) Outline the assumptions made in establishing the Hardy-Weinberg law.
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