Genetic Counseling Study Guide Questions
Course Introduction
Genetic Counseling is a course designed to introduce students to the principles and practices of providing information, guidance, and support to individuals and families regarding inherited genetic conditions and their implications. The course explores the scientific basis of genetic disorders, methodologies for diagnosis and risk assessment, strategies for effective communication, and ethical, legal, and psychosocial issues encountered in counseling. Students will develop skills in interpreting genetic testing results, constructing family pedigrees, and facilitating informed decision-making. Emphasis is placed on the counselors role in delivering compassionate, culturally sensitive care and advocating for patients navigating complex genetic information.
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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Chapter 1: A Perspective on Human Genetics
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Sample Questions
Q1) The methods of ____ have had the greatest impact on human genetics in recent decades.
A) cytogenetics
B) molecular genetics
C) transmission genetics
D) translational medicine
E) genomics
Answer: B
Q2) Chemical subunits called amino acids combine to make ____________________.
Answer: proteins
Q3) The development and use of ____ ushered in the era of genomics when geneticists began planning ways to sequence the 3.2 billion nucleotides in the human genome.
A) transmission genetics
B) the electron microscope
C) recombinant DNA technology
D) cytogenetics
E) karyotypes
Answer: C
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Page 3
Chapter 2: Cells and Cell Division
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Sample Questions
Q1) Mitosis is a process that is unique to humans.
A)True
B)False
Answer: False
Q2) Some cells retain the capacity to divide throughout their life cycle,whereas others do not divide in adulthood.Give one example of each type.
Answer: Cells in bone marrow continually move through the cell cycle,producing about 2 million red blood cells each second.
Skin cells constantly divide to replace dead cells that are sloughed off the surface of the body.
Many cells in the nervous system leave the cell cycle,enter G0,and do not divide in adulthood.
Q3) The chromosomal structure that anchors the spindle fiber to the chromosome is known as the ____________________.
Answer: centromere
Q4) In mitosis,chromatids separate and move to the center of the cell during ____________________.
Answer: metaphase
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4
Chapter 3: Transmission of Genes from Generation to Generation
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Sample Questions
Q1) Define Ockham's razor and provide an example.
Answer: Ockham's razor is based on a well-established principle of scientific reasoning known as parsimony.This was taken to mean that when constructing an argument,you should use the smallest number of steps possible.In other words,never go beyond the simplest argument.
Q2) Chi-square tests are used to determine whether a cross has been correctly constructed and analyzed.
A)True
B)False
Answer: False
Q3) Before Mendel began his pea plant experiments he wondered if traits in offspring result from blending of parental traits or it they are inherited as ____________________ units.
Answer: discrete
Q4) Methylmalonic acidemia (MMA)is caused by the inability to metabolize amino acids and fats.
A)True
B)False
Answer: True
5
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Chapter 4: Pedigree Analysis in Human Genetics
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Q1) Abraham Lincoln's son,Robert,showed no signs of Marfan syndrome.
A)True
B)False
Q2) Explain why color-blindness is much more common in males than in females.
Q3) Duchenne muscular dystrophy and Becker's muscular dystrophy are caused by different mutations in the same X-linked gene.
A)True
B)False
Q4) A blood test cannot determine if a person is a carrier of Tay-Sachs disease because the mutant allele is undetectable.
A)True
B)False
Q5) One goal of pedigree analysis is to discover whether the gene in question is located on an X or a Y chromosome or on a(n)____________________.
Q6) Choose one of the basic patterns of Mendelian inheritance and draw and explain a three-generation family pedigree illustrating that pattern.
Q7) Color blindness is an inherited disorder passed from ____________________ to child.
Page 6
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Chapter 5: The Inheritance of Complex Traits
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Q1) The genes discovered to date account for only about 5-10% of the total variation in adult height.
A)True
B)False
Q2) The concept of ____ explains why children of parents who are at the extreme ends of a normal (bell-curve)distribution for a phenotype are usually closer to the population average for the phenotype.
A) correlation coefficient
B) regression to the mean
C) multifactorial differences
D) concordance
E) epigenetics
Q3) 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
Q4) Skin color in humans is a(n)____________________ trait.
Q5) Mutations of some genes for human height result in ____________________.
Page 7
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Chapter 6: Cytogenetics - Karyotypes and Chromosome
Aberrations
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Q1) Trisomy 21 is the only autosomal trisomy that allows survival into adulthood.
A)True
B)False
Q2) 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
Q3) Viral infections are not considered a risk factor for autosomal trisomy because a virus cannot affect human chromosome arrangement.
A)True
B)False
Q4) List at least three types of information provided by a karyotype and interpret the chromosomal structural abnormality written as 46,XX,t(18q).
Q5) There are ____________________ chromosomes in a human tetraploid cell.
Q6) Researchers have suggested that all live-born infants with Turner syndrome are actually ____________________,with both 46,XX and 45,X cells present in their bodies.
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Chapter 7: Development and Sex Determination
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Q1) In addition to fertilizing the egg,sperm also ____.
A) assist the fertilizing sperm in penetrating the egg
B) trigger chemical changes in the egg
C) dissolve the outer barriers surrounding the oocyte
D) release chemicals to speed cell division in the zygote
E) trigger chemical changes in the egg that prevent the entry of more than one sperm
Q2) During the 1968 Olympic Games,the International Olympic Committee performed an analysis of ____ on all female athletes in order to verify their sex.
A) Barr bodies
B) hormone levels
C) karyotypes
D) genitalia
E) phenotypes
Q3) Teratogens affect the ____ more than any other part of the fetal body.
A) central nervous system
B) upper limbs
C) heart
D) lower limbs
E) external genitalia
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Page 9
Chapter 8: The Structure - Replication - and Chromosomal
Organization of DNA
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Q1) The name of the enzyme that replicates DNA is ____________________.
Q2) Rosalind Franklin did not share a part of the 1962 Nobel Prize for Medicine or Physiology because she had died four years earlier.
A)True
B)False
Q3) Maurice Wilkins and Rosalind Franklin obtained X-ray diffraction photographs that indicted that DNA has a ____________________ shape with a constant diameter.
Q4) Outline three properties of genes for which the Watson-Crick model offers an explanation.
Q5) 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.
Q6) Cytosine,uracil,and thymine are single-ringed nitrogen-containing organic bases called ____________________.
Q7) Because genetic information is stored as a linear sequence of bases in DNA,any change in the order or number of bases in a gene can result in a(n)____________________ that produces an altered
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Chapter 9: Gene Expression and Gene Regulation
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Q1) Proteins are the intermediary between a(n)____________________ and a(n)____________________.
Q2) Proteins are composed of subunits called ____ linked together by chemical bonds.
A) nucleotides
B) polynucleotides
C) mRNAs
D) amino acids
E) proteasomes
Q3) Elaborate on the idea that proteins are the workhorse molecules of the cell.
Q4) Prion diseases are always fatal and there is no treatment.
A)True
B)False
Q5) George Beadle and Edward Tatum discovered the key step in showing that genes produce ____________________ through the action of proteins.
Q6) Summarize the sequence of processing,sorting,and transport of proteins synthesized in a human cell.Then indicate which cell component corresponds with each number above.
Q7) Each amino acid is encoded by only one mRNA codon.
A)True B)False
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Chapter 10: From Proteins to Phenotypes
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Q1) Different genotypes for the CYP2D6 gene produce significantly different responses to tamoxifen,the medication often used to treat ____________________.
Q2) There is a direct link between a person's ____________________,the proteins a person makes,and that person's ____________________.
Q3) Dietary treatment of galactosemia ____.
A) need not begin until one or two months after birth
B) consists of very low protein intake
C) can usually be discontinued by the age of twelve
D) completely eliminates symptoms of the disease
E) should be started within a few days after birth
Q4) In the 1930s,Dr.Asbjor Folling described the metabolic disorder he called ____.
A) phenylketonuria
B) galactosemia
C) sickle cell anemia
D) lactose intolerance
E) phenylthiocarbamide
Q5) Identify several ways in which the study of hemoglobin variants led to an understanding of the molecular relationship among genes,proteins,and human disease.
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Chapter 11: Genome Alterations - Mutation and Epigenetics
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Q1) Control systems in the cell can induce cell suicide,or apoptosis,in cells with excessive DNA damage.
A)True
B)False
Q2) 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
Q3) Identical twins have identical ____,but they do not always have identical ____.
A) mitochondrial DNA; genotypes
B) genotypes; mitochondrial DNA
C) genotypes; phenotypes
D) phenotypes; genotypes
E) phenotypes; mitochondrial DNA
Q4) Describe how an epigenetic trait differs from a mutated trait.
Q5) Insertion or deletion of a nucleotide in a gene causes a type of mutation called a(n)____________________ mutation.
Page 13
Q6) The epigenetic state of a cell is called its ____________________.
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Chapter 12: Genes and Cancer
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Q1) About ____ of all cancer cases have a hereditary component.
A) 1% to 3%
B) 5% to 10%
C) 10% to 15%
D) 15% to 20%
E) 25% to 35%
Q2) In rapidly dividing cells,expression of BRCA1 and BRCA2 genes is the highest during the ____.
A) mitosis to cytokinesis transition
B) G1/S transition and into S phase
C) G2/mitosis transition
D) S/G2 transition
E) metaphase to anaphase transition
Q3) List three properties that all forms of cancers share and summarize the origin of these properties.
Q4) Radiation and chemotherapy are the best treatments for cancer because they are very specific and destroy only cancerous cells.
A)True
B)False
Q5) Summarize two pathways to colon cancer.
Page 14
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Chapter 13: An Introduction to Genetic Technology
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Q1) During PCR,____________________ takes place when primers for DNA replication bind to complementary regions on the single-stranded DNA fragments.
Q2) Genes isolated from mice or rats can often be used as ____________________ to identify and isolate the human version of the same gene.
Q3) The heart of a microarray is a small piece of ____________________ on which single-stranded fragments of DNA are attached at a spot called a field.
Q4) A yeast artificial chromosome (YAC)is a ____ that can accommodate large DNA inserts and uses the eukaryote yeast as a host cell.
A) restriction enzyme produced from yeast chromosomes
B) labeled nucleic acid used to identify a clone within a genome and C) q arm of chromosome 15 within a cell that encodes for a restriction enzyme and D) cloning vector that has telomeres and a centromere
E) cloning vector that has 23 chromosomes
Q5) Plasmids are short sequences of DNA used as primers in PCR.
A)True
B)False
Q6) Explain why identical twins are clones.
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Page 15
Chapter 14: Biotechnology and Society
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Q1) The USDA requires that food products from genetically modified organisms be clearly labeled as such.
A)True
B)False
Q2) In addition to the promise of disease therapies,the uses of stem cells in medical research include the study of how _____.
A) diseases develop and progress before phenotypes are visible
B) Huntington Disease progresses in its latest stages
C) to engineer animal models for human disease
D) to harvest multipotent cells from human blastocysts
E) to fertilize human eggs in vitro
Q3) The mouse is a particularly useful model for studying human disease because _____.
A) mice and humans are 100% genetically identical
B) all mice are in essence, clones
C) mice do not feel pain and discomfort
D) mice and humans are the only species whose genomes have been sequenced
E) approximately 90% of human disease-associated genes are present in the mouse genome
Q4) 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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Q1) Genes on the same chromosome are said to show ____________________.
Q2) Which of the following sequences indicates the promoter region of a gene?
A) CAAT
B) UAAG
C) CTTT
D) ACAT
E) TAAC
Q3) When Louis Kunkel discovered the gene associated with Duchenne's Muscular Dystrophy in the 1980s,he then needed to determine _____.
A) the MIM number of the gene
B) whether the gene was linked to blood type
C) how the mutant gene produces the disease phenotype
D) whether to use positional cloning to clone the gene
E) how many copy number variants were present in the gene
Q4) Genetic maps are constructed by estimating the distances between linked genes based on the calculation of ____________________.
Q5) According to data from the Human Genome Project,98.9% of the human genome is composed of ____________________ DNA sequences.
Q6) A set of SNPs close together on a chromosome is called a(n)____________________.
Page 17
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Chapter 16: Reproductive Technology - Genetic Testingand Gene Therapy
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Q1) The most common cause of low sperm count in males is _____.
A) varicocele
B) undescended testicles
C) testicular failure
D) semen disorders
E) obstructions
Q2) Babies who are born following PGD to select for a tissue match to an ailing sibling are referred to as ____________________.
Q3) A variation of the PGD method,called ____________________,can test for genetic disorders in the egg before fertilization.
Q4) The first successful outcome of gene therapy was in a case of a young girl suffering from ____________________,who was supplied with normal copies of the ADA gene.
Q5) In women,blocked oviducts can result from sexually transmitted diseases.
A)True
B)False
Q6) Fertilization takes place in the ____________________,and the embryo grows and develops in the ____________________.
18
Q7) The condition of having no sperm in the semen is called
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Page 19
Chapter 17: Genes and The Immune System
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Q1) 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
Q2) Discuss how a genetic variant may explain why HIV infection rates are highest in sub-Saharan Africa.
Q3) Juvenile diabetes (or insulin-dependent diabetes)results when insulin-producing cells in the pancreas are destroyed by the patient's own immune system.
A)True
B)False
Q4) 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
Q5) The use of organs harvested from animals for human transplants is called
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Page 20
Chapter 18: Genetics of Behavior
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Q1) To quantify the environmental contribution of a behavioral trait,scientists turn to
A) whole genome sequencing
B) heritability
C) genome wide association studies
D) analysis of innate behaviors
E) SNP and haplotype analyses
Q2) The _____________________ movement overemphasized the role of genetics in human behavior,leading to the forced sterilization of those who were considered genetically inferior based on personality traits.
Q3) The only gene that has been positively identified with the onset of Alzheimer disease encodes a protein that _____.
A) is involved in cholesterol metabolism
B) breaks down neurotransmitters
C) maintains the health of striatum cells
D) attaches amino acids to tRNA molecules
E) breaks down fatty deposits around neurons
Q4) Someone who steps on a sharp nail will quickly lift their foot away. This quick reaction is known as a(n)_____________________.
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Chapter 19: Population Genetics and Human Evolution
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Q1) When applying the Hardy-Weinberg law to a gene with dominant and recessive alleles,calculation of the allele frequencies always begins by writing the frequency of the _____________________ phenotype,then taking the _____________________ of this to obtain the frequency of the recessive allele.
Q2) There is significantly more genetic variation between human populations than within them.
A)True
B)False
Q3) The observation that some modern humans contain Neanderthal DNA suggests _____________________ occurred between H.sapiens and Neanderthals.
Q4) The taxonomic category that includes species of apes,humans,and their ancestors is known as ____.
A) hominids
B) hominins
C) hominoids
D) australopithecines
E) apes
Q5) Diagram the evolutionary relationships between Neanderthals and chimpanzees based on genomic data.
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