Course Introduction
Introduction to Genetics Study Guide Questions
Introduction to Genetics offers a comprehensive overview of the molecular and classical principles of heredity, focusing on how genetic information is transmitted, expressed, and regulated in living organisms. Students will explore Mendelian and non-Mendelian inheritance patterns, the structure and function of DNA, the mechanisms of gene expression, genetic mutations, and the role of genetics in evolution and human health. Through theoretical concepts and practical case studies, this course provides foundational knowledge crucial for further study in biological and biomedical sciences.
Recommended Textbook
Human Heredity Principles and Issues 11th Edition by Michael Cummings
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Page 2
Chapter 1: A Perspective on Human Genetics
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Sample Questions
Q1) Discuss some negative implications of recombinant DNA technology.
Answer: The use of herbicide-resistant corn and soybeans may speed the development of herbicide-resistant weeds and increase our use of and dependence on chemical herbicides.There is also the possibility that genetically engineered traits may be transferred to other organisms,leading to irreversible and deleterious changes in ecosystems.
Q2) Gene therapy can best be described as the ____.
A) repair of a defect (mutation) in a gene
B) insertion of normal genes to act in place of mutant genes
C) insertion of human genes into other organisms
D) cloning of genes to produce and purify therapeutically useful proteins
E) mapping of all human genetic information
Answer: B
Q3) The separation of genes during the formation of the sperm and egg and the reunion of genes at fertilization is explained by the behavior of chromosomes in a form of cell division called meiosis.
A)True
B)False
Answer: True
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Page 3
Chapter 2: Cells and Cell Division
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Sample Questions
Q1) A centromere is least likely to ____.
A) divide in anaphase of mitosis
B) connect sister chromatids
C) attach chromosomes to spindle fibers
D) cross over during prophase I of meiosis
E) be a component of DNA
Answer: D
Q2) A cell that cannot form spindle fibers cannot ____.
A) engage in energy production
B) exchange gases across the plasma membrane
C) perform mitosis nor meiosis
D) perform DNA replication
E) engage in protein synthesis
Answer: C
Q3) The four macromolecules making up our cells allow for the same structure and function across all cells in the body.
A)True
B)False
Answer: False
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Page 4
Chapter 3: Transmission of Genes from Generation to Generation
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Sample Questions
Q1) The offspring of a parental cross (P1)are called the F1,or ____________________.
Answer: first filial
Q2) In crosses involving complete dominance,the F2 genotypic ratio is 1:2:1 and is expressed as a phenotypic ____________________ ratio (express as x:x).
Answer: 3:1
Q3) Methylmalonic acidemia (MMA)is caused by the inability to metabolize amino acids and fats.
A)True
B)False
Answer: True
Q4) Independent assortment means that the ____.
A) phenotypes are often a blending of two independent genotypes
B) segregation of one gene pair depends on the segregation of another gene pair
C) gametes produced must be heterozygous in all cases
D) segregation of one gene pair occurs as if no other gene pair was present
E) phenotypic ratio in F2 will be the same for dihybrid and monohybrid crosses
Answer: D
Q5) Pure-breeding individuals always have the ____________________ genotype. Answer: homozygous
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Chapter 4: Pedigree Analysis in Human Genetics
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Sample Questions
Q1) The basic method of genetic analysis in humans requires a(n)____________________ of several generations.
Q2) Czar Nicholas II of Russia and Queen Victoria's granddaughter,Alix,were the parents of a son with the genetic disorder affecting the mechanism of blood clotting called ____________________.
Q3) Males never give an X chromosome to any of their sons.
A)True
B)False
Q4) Define the term hemizygous and explain how the hemizygous condition relates to sex-linked inheritance.
Q5) Explain why color-blindness is much more common in males than in females.
Q6) The initial circumstance that led some to believe that Abraham Lincoln had Marfan syndrome was that ____ had the disease.
A) one of Lincoln's descendants
B) Lincoln's sister
C) a descendent of Lincoln's great-great-grandfather
D) DNA analysis on Lincoln's skull determined that he
E) Photographs of Lincoln provided physical evidence that he
Q7) OMIM is an acronym that stands for ____________.
Page 6
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Chapter 5: The Inheritance of Complex Traits
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Sample Questions
Q1) 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
Q2) Cleft palate is ____.
A) controlled only by genetics
B) a continuously distributed trait
C) controlled by a single gene pair
D) only transmitted from father to son
E) explained by the threshold model of complex traits
Q3) Using today's genetic technology,it is possible to select ____________________ for specific traits.
Q4) Heritability studies cannot provide information about the number,location,or identity of genes involved in specific complex traits.
A)True
B)False
Q5) The correlation coefficient for unrelated people is ____________________.
Q6) Skin color in humans is a(n)____________________ trait.
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Sample Questions
Q1) Using fetal DNA from the mother's blood for prenatal testing is a noninvasive procedure.
A)True
B)False
Q2) One possible explanation for why ____________________ is a primary risk factor for autosomal trisomy is that oocytes remain in meiosis I until ovulation,which could take place many years after birth,making them more susceptible to damage.
Q3) Regions at the ends of chromosomes that prevent chromosomes from sticking to each other are called ____.
A) satellites
B) telomeres
C) centromeres
D) q zones
E) p zones
Q4) There are ____________________ chromosomes in a human tetraploid cell.
Q5) A chromosome that has a centrally-placed centromere is called
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Q6) Part of a chromosome moves to another,nonhomologous chromosome during
Chapter 7: Development and Sex Determination
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Sample Questions
Q1) In an XX embryo,____ inactivation of one X chromosome usually occurs when the embryo has about 32 cells.
A) phenotypic
B) inhibited
C) cascading
D) selective
E) random
Q2) A blastocyst ____.
A) releases hormones in the myometrium
B) releases the egg into the oviduct
C) implants in the endometrium
D) matures into a chorion
E) metabolically supports embryonic and fetal development
Q3) How is the timing of gamete formation in females different than that in males?
Q4) Female gametes complete meiosis II at ____________________.
Q5) Children born with ____________________ have genital structures that are neither fully male nor fully female.
Q6) A collection of birth defects caused by alcohol consumption during pregnancy is known as ____________________.
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Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Sample Questions
Q1) Summarize the process of DNA replication and outline the difference between how each strand replicates.
Q2) The chemical formula for glucose,C6H12O6,represents ____ atom(s)and ____ molecule(s).
A) 3; 3
B) 3; 6
C) 12; 12
D) 24; 1
E) 1; 24
Q3) A replicated DNA molecule contains one new strand and one old strand.
A)True
B)False
Q4) One of the two strains of Streptococcus pneumoniae isolated in the 1920s was surrounded by a ____________________,giving it the ability to evade the immune system and cause pneumonia.
Q5) The interphase nucleus has an internal structure in which each chromosome occupies a distinct region called a chromosome territory.
A)True B)False
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Chapter 9: Gene Expression and Gene Regulation
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Q1) Explain how the composition and distribution of codons among living organisms provide evidence for evolution from a common ancestor.
Q2) Prion diseases are always fatal and there is no treatment.
A)True
B)False
Q3) The process of post-transcriptional gene silencing triggered by micro-RNA molecules that stop translation is called ____.
A) RNA interference
B) micro-interference
C) translational interference
D) transcriptional disruption
E) disruptive genetic silencing
Q4) Outline the four levels of protein structure that give the protein its three-dimensional shape and determine its function.
Q5) A protein folded into an infectious conformation that is the cause of several disorders is called a(n)____________________.
Q6) An N-terminus is the end of a(n)____________________ that has a free amino group.
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Chapter 10: From Proteins to Phenotypes
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Q1) The presence of phenylpyruvic acid in urine is directly linked to ____.
A) heart disease
B) colon cancer
C) intellectual disability
D) spina bifida
E) liver cirrhosis
Q2) Discuss how mutations in proteins can be used to examine the link between a person's genotype and that person's phenotype.
Q3) Different genotypes for the CYP2D6 gene produce significantly different responses to tamoxifen,the medication often used to treat ____________________.
Q4) Discuss how the therapy for PKU would be different if the disease was not caused by the essential amino acid phenylalanine,but rather by a non-essential amino acid.Would the disorder be potentially more or less life-threatening? Explain your reasoning.
Q5) Discuss factors that must be taken into account when setting standards for safe levels of exposure to potentially harmful chemicals in the environment.Explain why setting these standards is such a complex task.
Q6) Hemoglobin is a(n)____________________-containing protein in red blood cells.
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Chapter 11: Genome Alterations - Mutation and Epigenetics
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Sample Questions
Q1) Describe how an epigenetic trait differs from a mutated trait.
Q2) Nonsense mutations change termination codons into amino acid codons.
A)True
B)False
Q3) The ability of DNA polymerase to repair its own nucleotide mismatches is called
Q4) Mutations in germ cells are passed on only to other germ cells in members of future generations.
A)True
B)False
Q5) The process by which electromagnetic energy travels through space is called ____.
Q6) Halogen-containing organic compounds persist in the environment for approximately five years.
A)True
B)False
Q7) A form of mutation associated with the expansion in copy number of a nucleotide triplet in or near a gene is called a(n)____________________.
Q8) Beckwith-Wiedemann syndrome results from abnormalities of
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Chapter 12: Genes and Cancer
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Sample Questions
Q1) When MSH2 and MLH1 are inactivated by mutation,DNA repair is defective and ____________________ mutation rates increase by at least 100-fold.
Q2) Stem cells ____.
A) have the property of self-renewal by division
B) are the least likely to give rise to cancer
C) do not have the ability to divide
D) are immature cells that become nerve tissue susceptible to cancer
E) are found only in cancerous tumors
Q3) The translocation seen in the Philadelphia chromosome in myelogenous leukemia represents ____.
A) a chromosomal aberration that is secondary to the cancer
B) a chromosomal aberration that is caused by the development of cancer
C) a proto-oncogene that has been deleted from chromosome 6 and inserted into chromosome 7
D) a specific chromosomal aberration accompanying a specific cancer
E) the evidence of exposure to chemical carcinogens
Q4) Explain why epithelial cells are the source of 80% to 90% of all cancers.Then list at least two types of epithelial cells,and at least four types of cancer for which they are the source.
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Chapter 13: An Introduction to Genetic Technology
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Q1) Explain the role of probes in the search for a specific human gene within a genome library.
Q2) During PCR,____________________ serve as a starting point for the synthesis of the new DNA strand.
Q3) Instead of a(n)____________________ group to link nucleotides together,the modified nucleotides used during automated DNA sequencing have only an -H.
Q4) Plant and animal food sources have been improved by ____________________ for thousands of years.
Q5) An advantage of YACs over other vectors in cloning human genes is that they ____.
A) are taken up more readily by recipient cells
B) have a higher capacity for carrying long DNA fragments
C) are less likely to trigger cell rejection
D) resemble a human chromosome more closely than do other vectors
E) carry long regions of human-like DNA
Q6) Growth hormones given to dairy cows would still be necessary to stimulate milk production in a cloned animal.
A)True
B)False
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Chapter 14: Biotechnology and Society
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Q1) Embryonic stem cells derived from blastocysts are pluripotent,and therefore useful in stem cell research because they ________.
A) are viable under a wide range of laboratory conditions B) do not replicate and are therefore stable long-term C) can form all cells, tissues, and organs of the human body D) are specialized and therefore arrested in G0 E) function to replace damaged or diseased body parts in adults
Q2) The ____________________ of STR alleles reveals how often they are observed in a population.
Q3) Before insulin from recombinant DNA became available,diabetics were treated with insulin derived from cadavers.
A)True
B)False
Q4) Explain the advantages of using recombinant DNA technology to produce human proteins in transgenic plants,animals,or cultured cells.
Q5) The most common use of DNA evidence in civil legal proceedings is
Q6) Summarize the concerns related to the use of transgenic crops.
Q7) Why is the term GMO a misnomer for transgenic organisms?
Page 16
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Chapter 15: Genomes and Genomics
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Sample Questions
Q1) Distances on genetic maps are measured in ____________________ and distances on physical maps are measured in ____________________.
Q2) Since the whole genome sequencing method eliminates the need for constructing physical and genetic maps,this method is _____.
A) superior for linkage studies
B) the only sequencing method currently used in genomics research
C) faster than the map-based sequencing method
D) more accurate than the map-based sequencing method
E) less accurate than the map-based sequencing method
Q3) The genes associated with color blindness and hemophilia are located on the X chromosome. If the recombination frequency between these genes is 25%,what is the genetic map distance between them? Explain how you arrived at your answer,and why calculating recombination frequencies are an important step in creating genetic maps.
Q4) ____________________ molecules are responsible for the phenotype of an organism.
Q5) The genomes of all the microbes present in or on the human body are collectively known as the proteome.
A)True
B)False
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Q1) An individual who is at risk of passing a genetic defect onto his or her offspring would most likely undergo ____.
A) genetic testing
B) genetic screening
C) enzyme replacement therapy
D) preimplantation genetic diagnosis (PGD)
E) amniocentesis
Q2) The method of gene therapy that would result in the transferred gene being passed onto offspring is known as ____________________.
Q3) ____________________ assess the risks of developing,inheriting,or transmitting genetic disorders,and assist clients in understanding this information.
Q4) A variation of the PGD method,called ____________________,can test for genetic disorders in the egg before fertilization.
Q5) Primary infertility is diagnosed when a couple who has had one child has trouble conceiving a second.
A)True
B)False
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Q6) The condition of having no sperm in the semen is called
Chapter 17: Genes and The Immune System
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Q1) Receptors on the surface of ____________________ T cells recognize the antigens displayed on the surface of an infected cell.
Q2) Because there are so many HLA allele combinations,it is rare to find unrelated individuals with the same HLA halplotypes.
A)True
B)False
Q3) The life threatening body-wide response that can occur when allergens enter the circulatory system and cause a severe drop in blood pressure is called ____________________.
Q4) John and all his brothers have no antibodies caused by non-functional B cells.Therefore,they are highly susceptible to bacterial infections.John and his brothers most likely have a condition called ____________________.
Q5) B and T cells become activated and divide to produce identical cells when _____.
A) activated by an antigen
B) major histocompatibility genes are expressed
C) activated by the presence of cancerous cells
D) plasma cells begin to produce and secrete antibodies
E) killer T cells bind to any pathogen
Q6) Disease-causing infectious agents are known as ____________________.
Page 19
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Chapter 18: Genetics of Behavior
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Q1) For which of the following diseases would animal models likely yield the most information?
A) alcoholism
B) schizophrenia
C) bipolar disorder
D) Huntington disease
E) nicotine addition
Q2) Discuss the dangers of placing too much emphasis on the genetic basis of personality and behavior.
Q3) Because sons adopted by alcoholic men show a rate of alcoholism more like that of their biological father,there is an argument for the role of genetic factors in this disease.
A)True
B)False
Q4) Would you recommend genetic testing for the APOE*4 allele in family members of an Alzheimer disease patient? Why or why not?
Q5) _____________________ is defined as the interaction of two or more gene variants to produce a certain phenotype.
Q6) Discuss the difficulties in studying the genetics of human behavior traits
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Chapter 19: Population Genetics and Human Evolution
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Sample Questions
Q1) During the eugenics movement of the 1900s,it was believed that individuals affected with certain genetic disorders should be sterilized to prevent transmitting the gene to future generations.Would such measures be effective? Why or why not?
Q2) According to the _____,modern humans originated in,and migrated out of,East Africa.
A) haplotype data of mitochondrial DNA sequences
B) haplotype data of Y chromosome sequences
C) out-of-Africa model
D) multiregional model
E) fossil record
Q3) Outline the assumptions made in establishing the Hardy-Weinberg law.
Q4) The relatively high percentage of individuals in West Africa who are heterozygous for the sickle cell trait is an example of _____.
A) natural selection
B) genetic drift
C) spontaneous mutational spread
D) heterozygote disadvantage
E) the founder effect
Q5) On average,humans differ by _____________________% of their genomic sequences.
Page 21
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