Genetics Final
Genetics Final Quiz
Test your knowledge on genetics and hereditary disorders with our comprehensive Genetics Final Quiz! This quiz is designed to assess your understanding of complex genetic concepts, from multifactorial disorders to pharmacogenetics.
Whether you are a student, teacher, or simply passionate about genetics, this quiz covers key topics including:
- Genetic Disorders
- Genetic Testing
- Pharmacogenetics
- Hereditary Diseases
- Genetic Risk Factors
Why are complex or multifactorial disorders more commonly expressed among adults than among children?
In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation.
As adults age, there is more time for environmental factors to influence the expression of a genetic disorder.
Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers.
Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder.
What is the best definition of the term compound heterozygous?
A person who expresses a genetic disorder having different mutations on two non-homologous chromosomes.
A person whose expression of an autosomal-recessive disorder is modified by silencing of one allele.
A person who has two different mutated alleles for an autosomal recessive disorder
A person having a complex disorder in which there is unequal influence of genetic and environmental contributions.
Which relatively common adult-onset disorder or health problem is the result of a mutation in a single-gene?
Hereditary hemochromatosis
Multiple sclerosis
Type 2 diabetes
Age-related macular degeneration
Why are women usually older than men before symptoms of hereditary hemochromatosis manifest?
Men have greater expression of the gene for hemoglobin than do women.
Women lose some iron with normal menstruation during childbearing years.
Men have a larger muscle mass and more iron storing capability than women.
Women have a counterbalancing normal gene on their second X chromosomes
What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?
Mutation repair is incompletely penetrant
The trait is recessive
Nongenetic factors can influence expression
Homologous genes can undergo chromatid exchanges
What factors increase the clinical severity of a-1 antitrypsin (ATT) deficiency?
4 only (the specific alleles of the genes inherited)
1 and 4 (Whether or not the person smokes and the specific alleles of the genes inherited)
2 and 3 (Whether or not the person uses alcohol and The severity of disease in affected relatives)
2 and 4 (Whether or not the person uses alcohol and the specific alleles of the genes inherited)
Which statement is true regarding age-related macular degeneration (AMD)?
It is transmitted in an autosomal-recessive pattern of inheritance
it is the most common cause of peripheral vision impairment among the elderly
Smoking increases the risk in those who are genetically susceptible
Predictive genetic testing can identify the genes that cause AMD
Which statement about atrial fibrillation is correct?
A variety of different genes can contribute to its expression
it is the most common genetic cardiac disorder worldwide
It is found exclusively in adults over 60 years old.
When severe, it leads to long QT syndrome
Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome?
Prolonged atrial fibrillation
Mitral valve prolapse
Torsades de pointes
Atrial node reentry tachycardia
What term is used to describe the gene-to-gene interaction in which the action of one gene modifies the expression of a different gene?
Heterogeneity
Epistasis
Genomic imprinting
Epigenetic penetrance
Which lysosomal storage disease is associated with an increased risk for stroke?
Gaucher disease
Tay-Sachs disease
Fabry disease
Hurler syndrome
Why is factor V Leiden disorder considered a form of thrombophilia?
Atherosclerosis development is accelerated
Platelet activity is impaired
Excessive bleeding episodes occur in response to minor trauma
Blood clots form more easily
What is the most accurate classification of the common forms of coronary artery disease and hypertension?
Sequential genetic disorders related to age, ethnicity, and gender
Complex disorders resulting from gene-environment interactions
Secondary disorders caused by lifestyle choices.
Primary disorders with an autosomal-dominant pattern of inheritance
Which variable in a person with coronary artery disease (CAD) increases the likelihood of a strong genetic influence in its expression?
The disorder is not present in the person's dizygotic twin
The disorder is present in about 5% of the person's maternal family members
The disorder is present in a women whose father had CAD
The affected person has eaten a vegetarian diet for the past 5 years
Which health problem is the most frequent cause of sudden cardiac death among young athletes?
Hypertrophic cardiomyopathy
Atrial fibrillation
Familial hypercholesterolemia Type 1
Romano-Ward form of long QT syndrome
For patients who have familiar hypercholesterolemia, what should be the focus of teaching for blood cholesterol reduction?
Exercising at least 4 to 5 hours every week
Taking the lipid-lowering drug as prescribed
Eliminating animal fats from the diet
Increasing the amount of fruit in the diet
What is meant by the phrase "behavioral genetics"?
The area of research aimed at controlling behavior by genetic manipulation
the examination of gene variants that influence behaviors
Identification of the single gene that corresponded to a specific undesired behavior
the study of the behavior of genes in diverse settings
Schizophrenia is reported to have a heritability estimate as high as 80%. What does this mean?
If we look at a population, 80% of the risk for schizophrenia comes from genetics
If your patient's siblings has schizophrenia, her risk of getting schizophrenia is 80%
Genetics contributes 20% to the risk of schizophrenia
If a parent has schizophrenia, each child has an 80% risk of getting schizophrenia
Which assessment finding in a 3 year old child increases the suspicion for a possible diagnosis of autism spectrum disorder?
The child does not sit still during the assessment interview
Language skills are delayed
The child is very near-sighted
Height is below the 5th percentile
Why is pharmacogenetics/ pharmacogenomics of particular interest in treating patients with psychiatric/ mental health problems?
Psychotropic medications have few side effects
Most psychiatric illnesses are single gene disorders with predictable drug responses
Current psychiatric medications may be effective in only a small group of patients
Genetics restricts patients to only one drug in each classification
How is cell-free DNA (cdDNA) testing being used clinically?
As a less invasive way to determine the characteristics of cancer cells
To determine a person's risk for developing breast cancer
As a way to determine whether a specific suspect has committed a rape
As an inexpensive alternative to standard paternity testing
Genetic testing that examines an asymptomatic person's DNA sequence, looking for mutations that increase a person's susceptibility to a disease, is an example of which type of testing?
Cytogenetic testing
Predispositional testing
Diagnostic testing
Presymptomatic testing
What type of genetic test provides information about an asymptomatic person's risk for having a child with a specific autosomal-recessive disorder in the future?
Predictive test
Diagnostic test
Newborn screening
Carrier test
Under what condition can preimplantation genetic testing be performed?
Between 4 to 6 weeks gestation
When an ultrasound indicates the fetus has a structural abnormality
During in vitro fertilization
When paternity is unknown
Which type of genetic testing examines a person's chromosomes for variations in number or structure?
Predictive testing
Cytogenetic testing
Electropherogram testing
Preimplantation
A woman whose sister tested positive for a specific mutation in the BRCA1 gene, which increases the risk for breast and ovarian cancer, is found not to have that mutation but does have a mutation of unknown significance near the known mutation site. How should this woman be counseled?
She should be informed that her risk for breast cancer is greater than that of the general population but not as great as her sister's risk
She should be informed of her gene-mutation status and be presented with all the available prophylaxis options and reconstruction options
She should be informed that she does not have the specific mutation but that because another mutation, is present, she should be vigilant about screening
She should be informed that because she does not have the mutation, her risk for breast cancer is not greater than that of the general population
Which of the following genetic-based disorders is NOT included on the most common types of newborn blood screening?
Type 1 diabetes
Sickle cell disease
Phenylketonuria
Cystic fibrosis
Which type of parent compound must undergo first-phase metabolism to produce the intended response after it enters the body?
A sustained-release drug
An inactive metabolite
A prodrug
An active metabolite
Which organ has the greatest concentration of cytochrome P (CYP) 450 enzymes?
Liver
Stomach
Kidney
Brain
Which statement about agonist and antagonist drugs is true?
The primary target tissues for these types of drugs are invading bacteria and viruses
Both drugs types must interact with receptors to produce their intended responses
These types of drugs are less likely to cause allergic responses than drugs that are neither agonists nor antagonists
Antagonists drugs produce only intended responses, and agonist drugs produce both intended responses and side effects
What would be the patient's response to a normal drug dose that, because of a genetic variation in an enzyme that prepares the drug for elimination, results in a blood drug level that is below the minimum effective concentration (MEC)?
The drug's duration of action is longer than expected
The intended/ therapeutic response fails to be produced
The risk for toxic side effects is increased
Drug entry exceeds drug elimination
A patient is identified as an ultra-rapid metabolizer for drugs that are prepared for elimination by CYP2D6. What effect will this have on the patient's ability to benefit from any active drug that is metabolized by this enzyme?
Intended responses decrease, whereas side effects increase
Intended responses increase, whereas side effects decrease
Both intended responses and side effects increase
Both intended responses and side effects decrease
A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painful injury, codeine was not effective in managing his pain. What is the nurse's best response or action?
Reassure the patient that he will receive progressively higher dosages of codeine until his pain is controlled
Alert the health care provider that this patient is "drug-seeking"
Communicate this information to the admitting physician
ask the patient how much alcohol he ingests daily
Your patient has been identified as a poor metabolizer of a drug that has been ordered, and the drug is formulated as an active compound. What will be the most likely result if you give this active drug at the standard dose?
Increased adverse reactions and possible toxicity
No therapeutic response
Therapeutic response as expected in the general population
Drug inactivation occurs more rapidly, and the therapeutic response is limited
How do genetics counselors provide genetic/ genomic information to patients and families in a non directive manner?
skillfully directing the patient and family toward the best choice that is supported by appropriate research
Providing only the information the patient or family specifically requests
Presenting all facts and available options in a manner that neither promotes nor excludes any legally permitted decision or action
Filtering management options and focusing on the information that will support the decision they believe is right for the individual patient/family
Why do genetic counseling programs include extensive courses on laboratory methods in genetics?
So that the certified genetics counselor is able to draw blood proficiently and safely
So that the certified genetics counselor can perform standard karyotyping on routine blood specimens
So that the certified genetics counselor can help patients understand testing procedures and results
So that the certified genetics counselor can serve as a backup genetics technician in small laboratories A.) so that the certified genetics counselor can help patients understand testing procedures and results
A woman's family history for breast cancer includes two paternal aunts who developed breast cancer before age 45. Which genetics professional would be the most appropriate for assistance in helping this patient understand the health risk posed by this family history?
Genetic counselor
Medical geneticist
Clinical laboratory geneticist
Clinical geneticist
Which activity would be a general registered nurse be expected to perform as a part of genomic care?
Requesting a consultation visit from a clinical geneticist
Obtaining an accurate family history and physical assessment data
calculating recurrence risk for parents who have just had a child with nondisjunction down syndrome
informing a patient that his test results are positive for a genetic disorder
Jessica (aged 32) is BRCA1 positive, which is known to greatly increase the risk for breast and ovarian cancer. She was tested because her mother, who had ovarian cancer, was BRCA1 positive. Jessica has decided to have both of her ovaries removed because she believes that, in her family, being BRCA1 positive increases the risk for ovarian cancer only. How should a genetic counselor respond to Jessica's statement?
Discuss Jessica's responsibility to inform all the other female members of her family about her BRCA1 status and cancer risk
Encourage her to consider a bilateral mastectomy
Clarify that a BRCA1 mutation does not preferentially express ovarian cancer over breast cancer in any given family
Accept Jessica's explanation as a manifestation of her autonomy and remain non-directive in the interactions with her
Which of the following would be included in the pharmacokinetics of a medication?
Drug interactions with cell receptors
Drug elimination
Side effects related to the drug
The intended action of the drug
Preimplantation genetic diagnosis provides parents with which options?
The ability to absolutely guarantee that they will have a healthy baby
The ability to select embryos for implantation that test negative for a familial disease mutation or chromosomal abnormality
The ability to screen normally fertilized embryos for genetic traits after the first trimester
The opportunity to determine how many children they will conceive
A patient ask you whether the Genetic Information and Nondiscrimination Act (GINA) means that his insurance company is required to pay for his genetic testing is he elects to have it done. What is your best response?
"No, it only protects again discrimination and does not require insurance companies to pay for testing."
"Yes, if you agree to share the test results with your family, your health-care provider, and your insurance company."
"Yes, if other family members have already been found positive for a disease-causing mutation."
"No, unless testing finds a specific disorder for which a current medical intervention has been proven effective."
You are caring for a college professor who has been offered testing for her family's mutation in BRCA1. She expresses fear of genetic discrimination as a reason for refusing genetic testing. What do you tell her?
"There is no need to be concerned about genetic discrimination."
"I appreciate your concerns, but there is no way your insurance company or employee will ever be able to get your genetic testing results."
"There is now federal legislation banning genetic discrimination, and in addition, we will do everything we can to keep your results confidential."
"There have been no instances of documented genetic discrimination in insurance or employment. This concern is overblown."
Under what conditions would genetic testing for predisposition to an inherited disorder in a minor child be considered reasonable?
When the family pedigree indicates an autosomal-dominant pattern of inheritance
When the risk is high and prophylaxis to reduce the severity of the disorder is available
When penetrance is high and the expected onset is middle adulthood
When the mutation within a family is know and is specific
A scientist is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted. What area of genetic work or studies does this example represent?
Genetic imprinting
Eugenics
Cytogenetics
Cybernetics
What should be told to the patient who has been found to have a genetic mutation that increases the risk for colon cancer and says he does not want any of his family to know about this result?
"It is your decision to determine with whom, if anyone, you share this test result; however if you do not tell any of your family members and they get colon cancer, you would be responsible for their development of the disease."
"It is required by law that you inform your siblings and you children about this result so that they can also be tested and monitored for colon cancer."
"It is not required that you tell anyone of this result; however because your siblings and children may also be at risk for colon cancer, you should think about how this information might help them."
"It is not necessary to tell your siblings because they are adults, but you should tell your children so that they can be tested before they decide to have children of their own."
What criteria must a population meet in order to stay in Hardy-Weinberg equilibrium?
Assortative mating, migration, and frequent mutation
Founding commonalities and no haplotype difference
Random mating, no migration, and no mutation
Limited procreation, no diet change
A group of eight space travelers, four men and four women, settled on the planet Zebulon. Their descendants had a very high rate of the autosomal-dominant disorder moonophilia distractens. What factor could explain this phenomenon?
Founder effect
Hardy-weinberg equilibrium
Variable expressivity
Equal exposure to an environmental mutagen
The Black Death was a pandemic spreading across Europe between 1348 and 1350. Estimates state that 30% to 60% of Europe's population died from the Black Death. If we look at Europe's population before the pandemic and compare it to the population several generations later, what are we likely to find?
The same degree of genetic diversity in later as in earlier generations
More genetic diversity in later generations
Less genetic diversity in earlier generations
Less genetic diversity in later generations
Which term refers to a random change in allele frequencies, not based on natural selection?
Genetic drift
Population bottleneck
Migration effect
Founder effect
Which of the following does NOT fall under protected genetic information in the Genetic Information and Nondiscrimination Act (GINA)?
The cost of the genetic test
Requested genetic services
Your own test results
Your family member's test results
CRISPR is a type of technology that allows us to do what?
Gene therapy
DNA sequencing
Cytogenetics
Genetic imprinting
What term refers to the sum total of all alleles for all the genes in a given population?
Gene pool
Hardy-weinberg
Founder effect
Evolution
Which term refers to the quality claimed by a group of people who indentify with each other and believe they share a cultural heritage?
Ethnicity
Race
Population genetics
Founder effect
In the Hardy-Weinberg equation, what does the p stand for?
The frequency of the dominant allele
The frequency of the recessive allele
The frequency of codominance
The frequency of heterozygosity
{"name":"Genetics Final", "url":"https://www.quiz-maker.com/QPREVIEW","txt":"Test your knowledge on genetics and hereditary disorders with our comprehensive Genetics Final Quiz! This quiz is designed to assess your understanding of complex genetic concepts, from multifactorial disorders to pharmacogenetics.Whether you are a student, teacher, or simply passionate about genetics, this quiz covers key topics including:Genetic DisordersGenetic TestingPharmacogeneticsHereditary DiseasesGenetic Risk Factors","img":"https:/images/course1.png"}