Advanced Human Genetics Exam Preparation Guide
Course Introduction
Advanced Human Genetics delves into the molecular and cellular principles that govern the inheritance, expression, and variation of genes in human populations. The course examines the latest breakthroughs in genomics, epigenetics, and gene regulation, as well as their implications for human development, disease, and personalized medicine. Topics include chromosomal abnormalities, Mendelian and complex inheritance patterns, genetic mapping, mutation analysis, and cutting-edge methodologies such as CRISPR gene editing and high-throughput sequencing. Students will also explore the ethical, legal, and social considerations surrounding modern genetics research, preparing them for advanced studies or careers in biomedical science and genetic counseling.
Recommended Textbook
Human Heredity Principles and Issues 11th Edition by Michael Cummings
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19 Chapters
1140 Verified Questions
1140 Flashcards
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Page 2
Chapter 1: A Perspective on Human Genetics
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Sample Questions
Q1) The process in which genes move from one chromosome to another is called
Answer: recombination recombining
Q2) Chemical subunits called amino acids combine to make ____________________.
Answer: proteins
Q3) Eugenics is the attempt to improve the human species by ____________________.
Answer: selective breeding
Q4) The DNA components adenine,thymine,guanine,and cytosine are examples of ____. A) phosphates
B) sugars C) bases
D) genes
E) ribosomes
Answer: C
Q5) ____________________ is the branch of genetics that is used to map genes and study chromosome structure and abnormalities in chromosome number and organization.
Answer: Cytogenetics
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Chapter 2: Cells and Cell Division
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Sample Questions
Q1) In meiosis of oogenesis,how many mature eggs result?
A) one
B) two
C) three
D) four
E) five
Answer: A
Q2) One treatment for Gaucher disease is enzyme replacement therapy.
A)True
B)False Answer: True
Q3) Mitosis is a process that is unique to humans.
A)True
B)False Answer: False
Q4) Mitotic divisions reduce the number of chromosomes found in daughter cells.
A)True
B)False Answer: False
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Chapter 3: Transmission of Genes from Generation to Generation
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Sample Questions
Q1) Alternate forms of a gene are called ____.
A) homologues
B) loci
C) alleles
D) homozygous
E) heterozygous
Answer: C
Q2) The offspring (F1)resulting from the cross between two red flowered plants are 3/4 red and 1/4 white.The most likely genotype of both red flowered parental plants (P1)is
A) codominant recessive
B) incomplete dominant
C) incomplete recessive
D) heterozygous
E) homozygous recessive
Answer: D
Q3) The fusion of gametes during fertilization restores the ____________________ number of chromosomes.
Answer: diploid
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Chapter 4: Pedigree Analysis in Human Genetics
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Sample Questions
Q1) A marriage between two related individuals,such as first cousins,is called ____________________.
Q2) Summarize the arguments,both for and against,for the hypothesis that Abraham Lincoln had Marfan syndrome.
Q3) Mitochondria are transmitted from mothers to ____.
A) all of their daughters through the cytoplasm of the egg
B) all of their sons through the cytoplasm of the egg
C) all of their children through the cytoplasm of the egg
D) 50% of their children through the X chromosome
E) 50% of daughters through the X chromosome
Q4) Define the terms penetrance and expressivity and explain how they affect the expression of single gene traits.
Q5) Draw and label a pedigree of Noah and his parents based on the theory that he was affected with an autosomal recessive genetic disorder.Explain your drawing and briefly describe the disorder that Noah might have had.
Q6) If both parents are homozygous for a disease-causing recessive gene,____________________ of their children will be affected.
Q7) Explain why color-blindness is much more common in males than in females.
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Chapter 5: The Inheritance of Complex Traits
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Sample Questions
Q1) Genetic testing for complex traits ____.
A) does not supply enough information to make it useful
B) reveals the phenotype of the organism
C) reveals the effects of the environment on the genome
D) reveals how many genes are involved in producing the trait
E) cannot exactly define risks
Q2) Skin color in humans is a(n)____________________ trait.
Q3) Genomic technology allows researchers to use ____ to survey the genome to detect associations between common variations and a specific phenotype.
A) pedigrees
B) continuous traits
C) chromosome number
D) nucleotide variations
E) RNA
Q4) The genotype is fixed at the moment of ____________________ and,barring mutation,is unchanging.
Q5) Scientists are researching how much influence ____________________ has on the differences in IQ among population groups often classified as different races.
Q6) If only one twin has a trait,the twins are ____________________ for that trait.
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Sample Questions
Q1) The risk for Down syndrome increases ____.
A) when the mother is over thirty-five years old
B) when the father is over thirty-five years old
C) when the father is over fifty years old
D) for dizygotic twins
E) for monozygotic twins
Q2) One technique for chromosome analysis is called ____________________,which uses chromosome-specific DNA sequences attached to fluorescent dyes to target specific chromosomal regions.
Q3) Amniocentesis collects cells from the fluid surrounding the fetus in order to prepare a(n)____________________.
Q4) If nondisjunction occurs during meiosis I,____.
A) two gametes will be normal and two will be missing one chromosome
B) two gametes will be normal and two will have one extra chromosome
C) three gametes will be normal and one will have two extra chromosomes
D) all gametes will be normal
E) all gametes will be abnormal
Q5) There are no cases of -XX or Y individuals,but X individuals do exist.Propose an explanation for this statistic.
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Chapter 7: Development and Sex Determination
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Sample Questions
Q1) The most important events in human development occur during the ____.
A) week before birth
B) month before birth
C) first trimester
D) second trimester
E) third trimester
Q2) The chorionic villi eventually form the placenta,a disc-shaped structure that ____.
A) releases sex hormones at appropriate times throughout pregnancy
B) initiates uterine contractions
C) binds to the zygote to accelerate organ development
D) nourishes the embryo throughout pregnancy
E) prevents infection by blocking the passage of microorganisms through the cervix during pregnancy
Q3) The brain and nervous system of a developing embryo can only be damaged during the very early stages of development.
A)True
B)False
Q4) The lower neck of the uterus opening into the vagina is the ____________________.
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Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Sample Questions
Q1) 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
Q2) In RNA,the base ____ takes the place of the base thymine.
A) deoxyribose
B) ribose
C) pentose
D) guanine
E) uracil
Q3) Summarize the process of DNA replication and outline the difference between how each strand replicates.
Q4) Explain how a telomerase inhibitor might be an effective cancer treatment.
Q5) The H5N1 influenza killed more than 50% of those infected.
A)True
B)False
Page 10
Q6) Describe the structure of DNA using the accompanying figure as a reference.
Chapter 11: Genome Alterations - Mutation and Epigenetics
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Sample Questions
Q1) Control systems in the cell can induce cell suicide,or apoptosis,in cells with excessive DNA damage.
A)True
B)False
Q2) Mutagenic chemicals that ____ and are incorporated into DNA or RNA during synthesis are called base analogs.
A) resemble nucleotides
B) resemble genes
C) resemble amino acids
D) cause deletion mutations
E) cause frameshift mutations
Q3) A promoter is a regulatory region located at the ____.
A) beginning of a gene
B) end of a gene
C) beginning of a chromosome
D) centromere of a chromosome
E) end of a chromosome
Q4) The ability of DNA polymerase to repair its own nucleotide mismatches is called
Q5) Beckwith-Wiedemann syndrome results from abnormalities of
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Chapter 12: Genes and Cancer
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Sample Questions
Q1) In the atmosphere,____________________depletion in certain regions of the globe contributes to increased levels of UV radiation exposure,which in turn is associated with increases in skin cancer frequency.
Q2) The RB1 tumor-suppressor gene ____.
A) controls the G2/M checkpoint
B) controls the G1/S checkpoint
C) is overactive in cases of retinoblastoma
D) is overactive in cases of breast cancer
E) is overactive in cases of leukemia
Q3) The cancer drugs Gleevec and Herceptin bind to receptor ____________________ and stop the growth of cancer cells.
Q4) In most cases,cancer-causing mutations ____.
A) accumulate over a number of years
B) accumulate very quickly within a single cell
C) metastasize within a short time
D) must all occur on the q arm of a chromosome
E) occur during the G0 phase of the cell cycle
Q5) Summarize two pathways to colon cancer.
Q6) Mutant forms of proto-oncogenes are called ____________________.
Q7) The five-year survival rate of ____________________ cancer is only 13%.
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Chapter 13: An Introduction to Genetic Technology
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Sample Questions
Q1) To interpret microarray data,it is necessary to understand the significance of the color of each dot within the array.
A)True
B)False
Q2) The DNA sequencing reaction uses the enzyme DNA polymerase,a primer,and ____________________.
A) a restriction enzyme
B) a self-replicating vector
C) a plasmid RNA
D) the four deoxynucleotides found in DNA
E) the four ribonucleotides found in RNA
Q3) DNA cloning techniques have made it possible to locate ____________________,map them,isolate them,sequence them,and transfer them between species.
Q4) After a restriction enzyme cuts DNA into fragments and the fragments pair with complementary bases,the enzyme ____________________ is used to seal the gaps in the phosphate backbone.
Q5) A human ____________________ can be carried in just over 3,000 YACs.
Q6) List some of the applications of DNA sequencing.
Q7) Describe a benefit of cloning plants and animals.
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Chapter 14: Biotechnology and Society
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Sample Questions
Q1) Golden rice contains a transgene that allows for increased production of vitamin A.
A)True
B)False
Q2) Transgenic Bt crops have been genetically modified to _____.
A) resist common herbicides
B) have increased protein content
C) produce an insecticide
D) be tolerant of salt in the soil
E) grow faster
Q3) The use of ____________________ or ____________________ for stem cell therapies offers alternatives to the destruction of human embryos that occurs when embryonic stem cells are harvested.
Q4) A bone marrow transplant is an example of a stem cell therapy using adult stem cells.
A)True B)False
Q5) The first organisms used in recombinant DNA technology were
Q6) Summarize the concerns related to the use of transgenic crops.
Page 17
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Chapter 15: Genomes and Genomics
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Sample Questions
Q1) Data gained from the Human Microbiome Project could help scientists understand
A) microbial haplotypes
B) where microbes are concentrated in the human body
C) the function of probiotics
D) why antibiotics disrupt the microbiome
E) how changes in the microbiome can lead to disease
Q2) Genetic maps are constructed by estimating the distances between linked genes based on the calculation of ____________________.
Q3) Some people are unable to properly metabolize the drug Purinethol,which is given to patients with acute lymphoblastic leukemia; therefore,such patients must be first tested for the associated genetic variant to determine proper dosage of the drug. This scenario best illustrates the use of _____.
A) pharmacogenomics
B) map-based sequencing
C) positional cloning
D) annotation of DNA sequences
E) comparative genomics
Q4) Genes on the same chromosome are said to show ____________________.
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Sample Questions
Q1) Genetic counselors are typically medical doctors who specialize in treating infertile couples.
A)True
B)False
Q2) The genetic engineering of human-animal hybrids is a routine procedure related to assisted reproductive technologies.
A)True
B)False
Q3) Discuss the ethical issues - both for and against - associated with PGD selection of savior babies.
Q4) Gene doping is an approved and widely accepted training technique for elite athletes.
A)True
B)False
Q5) Zygote intrafallopian transfer (ZIFT)requires in vitro fertilization to be performed before embryo transfer into the oviduct.
A)True
B)False
19
Q6) The condition of having no sperm in the semen is called
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Page 20
Chapter 17: Genes and The Immune System
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Sample Questions
Q1) The process by which an antigen binds to a specific antibody on a naïve B cell,thereby triggering mitosis and the build-up of a large population of antibody-secreting plasma cells (also known as effector B cells),is called
Q2) Once formed,B cells mature in the _____,while T cells mature in the _____.
Q3) 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
Q4) The complement system functions to ____ and ____.
A) mobilize B cells; initiate antibody production
B) help the innate immune system; turn on expression of T-cell receptor protein genes
C) destroy invading cells; provide a physical barrier against pathogens
D) destroy invading cells; guide phagocytes to the infection site
E) destroy viruses; guide phagocytes to the site of inflammation
Q5) The transplant of pig bone marrow into a human recipient may overcome the ____________________ triggered by transplanted pig organs.
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Chapter 18: Genetics of Behavior
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Sample Questions
Q1) Discuss the importance of twin and adoption studies to human behavioral genetics research.
Q2) Individuals with a genetic variant in the promoter region of the MAOA gene display violent behavior,independent of environmental factors.
A)True
B)False
Q3) The normal _____________________ protein binds to hundreds of other proteins to facilitate synaptic function,cell signaling,intracellular transport,and transcription.
Q4) A mutation in the MAOA gene is associated with ____ behavior.
A) depressive
B) risk-taking
C) violent
D) schizophrenic
E) bipolar
Q5) All psychiatric illnesses studied to date have been shown to result from a mutation in a single gene.
A)True
B)False
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Chapter 19: Population Genetics and Human Evolution
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Sample Questions
Q1) In a hypothetical population of 1,000 people,there is a hypothetical trait called pink toe.People who are homozygous dominant have red toes,those who are homozygous recessive have white toes,and those who are heterozygous have pink toes.If 400 people have red toes,the number of people with pink toes is _____________________.
Q2) 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?
Q3) 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
Q4) In the U.S.,many states passed laws against miscegenation,or marriage between individuals of different races.What genetically based arguments would you use in support or opposition to such laws?
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