Introduction to Human Disease Genetics
Mock Exam
Course Introduction
Introduction to Human Disease Genetics explores the genetic basis of human diseases, delving into how inherited and acquired genetic variations contribute to the development, progression, and treatment of various conditions. Students will learn foundational concepts such as Mendelian and non-Mendelian inheritance, molecular mechanisms underlying genetic disorders, and modern genomic technologies used in disease gene discovery. The course also examines ethical, legal, and social implications of genetic information, while highlighting recent advances in gene therapy and personalized medicine. Through case studies and real-world examples, students gain insight into the impact of genetics on human health and disease.
Recommended Textbook Emerys Elements of Medical Genetics 14th Edition by Peter Turnpenny
Available Study Resources on Quizplus
24 Chapters
149 Verified Questions
149 Flashcards
Source URL: https://quizplus.com/study-set/2117 Page 2
Chapter 1: The History and Impact of Genetics in Medicine
Available Study Resources on Quizplus for this Chatper
3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42191
Sample Questions
Q1) Which of the following causes deviations from the law of independent assortment?
A) The genes of interest are on the same chromosome
B) The genes of interest are linked
C) Homologous recombination between genes
D) Nonhomologous recombination
E) Nondisjunction
Answer: B
Q2) Which of the following is generally true for genetic diseases?
A) The incidence is less than the prevalence
B) The incidence is greater than the prevalence
C) The incidence equals the prevalence
Answer: B
Q3) Which of the following can be used to determine the potential genotypes of offspring from a simple Mendelian cross?
A) Punnett square
B) Hardy-Weinberg equilibrium
C) Bayesian analysis
D) Law of independent assortment
E) Rules of probability
Answer: A
To view all questions and flashcards with answers, click on the resource link above. Page 3
Chapter 2: The Cellular and Molecular Basis of Inheritance
Available Study Resources on Quizplus for this Chatper
16 Verified Questions
16 Flashcards
Source URL: https://quizplus.com/quiz/42192
Sample Questions
Q1) Which of the following are encoded by the mitochondrial genome?
A) All mitochondrial proteins
B) Mitochondrial DNA polymerase
C) Proteins involved in oxidative phosphorylation
D) Mitochondrial transcription factors
E) Ribosomal proteins
Answer: C
Q2) In genetic expansions of a repeat encoding which amino acid are known to be pathogenic?
A) Alanine
B) Glutamine
C) Glycine
D) Proline
E) Methionine
Answer: B
To view all questions and flashcards with answers, click on the resource link above. Page 4
Chapter 3: Chromosomes and Cell Division
Available Study Resources on Quizplus for this Chatper
7 Verified Questions
7 Flashcards
Source URL: https://quizplus.com/quiz/42193
Sample Questions
Q1) Which of the following refers to the central constriction of a chromosome?
A) Telomere
B) Centromere
C) Centriole
D) Chromatid
E) Central repeat
Answer: B
Q2) Which form of chromosomal DNA stains darkly and is largely composed of unexpressed,repetitive DNA?
A) Euchromatin
B) 5' UTRs
C) Heterochromatin
D) Nucleosomes
E) Introns
Answer: C
To view all questions and flashcards with answers, click on the resource link above. Page 5
Chapter 4: Dna Technology and Applications
Available Study Resources on Quizplus for this Chatper
3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42194
Sample Questions
Q1) What is the advantage of using a VNTR over SNP as a genetic marker?
A) There are more VNTRs in the genome
B) VNTRs are less variable
C) There are generally more alleles for each VNTR than for each SNP
D) VNTRs are located within genes
E) VNTRs are more likely to be mutations rather than polymorphisms
Q2) Which type of marker is used for DNA fingerprinting?
A) SNP
B) Microsatellite
C) Indel
D) Minisatellite
E) Copy number variant
Q3) Why are dideoxynucleotides added to the reaction in the Sanger sequencing methodology?
A) They label the DNA strands
B) They cause termination of the replicating strand
C) They allow longer processivity of the DNA polymerase
D) They cement the newly synthesized strand to the template strand
E) There is a lower chance of mutation during the sequencing reaction
To view all questions and flashcards with answers, click on the resource link above.
Page 6
Chapter 5: Mapping and Identifying Genes for Monogenic Disorders
Available Study Resources on Quizplus for this Chatper
3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42195
Sample Questions
Q1) What is a contig?
A) A series of genetic markers across a genome
B) A series of markers across a chromosome
C) A series of clones with overlapping DNA that spans a particular genetic region
D) A series of clones from a variety of individuals that represent that same genetic region
E) A series of clones from a variety of organisms that represent syntenic regions
Q2) What supporting evidence can be used to decide whether variation in a gene is actually a mutation?
A) It is never found in people without the phenotype of interest
B) It must be in an exon
C) Additional variation is found in the same gene in other people with a similar phenotype
D) It is expressed only in a tissue relevant to the phenotype
E) All of the above
To view all questions and flashcards with answers, click on the resource link above. Page 7
Chapter 6: Developmental Genetics
Available Study Resources on Quizplus for this Chatper
9 Verified Questions
9 Flashcards
Source URL: https://quizplus.com/quiz/42196
Sample Questions
Q1) Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?
A) Holoprosencephaly
B) Osteogenesis imperfecta
C) Primary sex reversal
D) Spina bifida
E) All of the above
Q2) Proteins that are involved in developmental regulation are also commonly involved in what phenotype?
A) Deafness
B) Cancer
C) Ataxia
D) Neurodegeneration
E) Premature aging
Q3) Proteins that contain a zinc finger motif share what function?
A) Kinase
B) Phosphatase
C) Protease
D) Transcription factor
E) Inducers of apoptosis
To view all questions and flashcards with answers, click on the resource link above. Page 8
Chapter 7: Patterns of Inheritance
Available Study Resources on Quizplus for this Chatper
11 Verified Questions
11 Flashcards
Source URL: https://quizplus.com/quiz/42197
Sample Questions
Q1) Which term is used to describe a disorder that occurs only in individuals of a particular sex?
A) Sex-influenced
B) Y-linked
C) X-linked
D) Sex-limited
E) Sex-determined
Q2) Traits that are observed in individuals who are heterozygous for mutations at two different loci are called
A) Digenic traits
B) Biallelic traits
C) Compound heterozygotes
D) Compound traits
E) Epistatic traits
Q3) Which of the following is the molecular explanation for genetic anticipation?
A) Mitochondrial mutations
B) Heteroplasmy
C) Trinucleotide repeat expansions
D) Skewed X-inactivation
E) Mutational selection
To view all questions and flashcards with answers, click on the resource link above. Page 9
Chapter 8: Population and Mathematical Genetics
Available Study Resources on Quizplus for this Chatper
13 Verified Questions
13 Flashcards
Source URL: https://quizplus.com/quiz/42198
Sample Questions
Q1) Which of the following describes the relative genotype frequencies in a randomly mating population?
A) Law of random segregation
B) Law of natural selection
C) Hardy-Weinberg principle
D) Law of independent assortment
E) Darwin's principle
Q2) How are the LOD scores from multiple affected families combined?
A) Added
B) Subtracted
C) Averaged
D) Multiplied
E) They cannot be combined
Q3) What has led to the rise in frequency of the alleles for the sickle cell trait?
A) Genetic drift
B) Population bottleneck
C) Heterozygote advantage
D) Negative selection
E) Assortative mating
To view all questions and flashcards with answers, click on the resource link above.
Page 10
Chapter 9: Polygenic and Multifactorial Inheritance
Available Study Resources on Quizplus for this Chatper
8 Verified Questions
8 Flashcards
Source URL: https://quizplus.com/quiz/42199
Sample Questions
Q1) Multifactorial,quantitative traits often show which type of distribution in a population?
A) Normal
B) Uniform
C) Bernoulli
D) Random
E) Bimodal
Q2) What is population stratification?
A) Separation of a cohort into cases and controls
B) Separation of a cohort by ethnicity
C) A false positive association due to the presence of unrecognized subpopulations in a cohort
D) The use of subsets of a cohort in both family-based and case-control association studies
E) A false negative study due to heterogeneity in a cohort
To view all questions and flashcards with answers, click on the resource link above.
Chapter 10: Hemoglobin and the Hemoglobinopathies
Available Study Resources on Quizplus for this Chatper
5 Verified Questions
5 Flashcards
Source URL: https://quizplus.com/quiz/42200
Sample Questions
Q1) The HbA form of hemoglobin consists of which globin chains?
A) 1 a, 1 b
B) 2 a, 2 b
C) 2 a
D) 2 a, 2 g
E) 1 a, 1 g
Q2) The complete absence of a globin production gives rise to which phenotype?
A) Sickle cell disease
B) Hb H disease
C) b-thalassemia
D) Hydrops fetalis
E) Normal adult hemoglobin production
Q3) Which of the following statements is true regarding the a1 and a2 globin chains?
A) They are identical at the nucleotide and amino acid sequence level
B) They differ at the nucleotide level but are identical at the amino acid level
C) a1 pairs only with b1, and a2 pairs only with b2
D) a1 is expressed in the fetus, and a2 is expressed after birth
E) a2 is a pseudogene of a1
To view all questions and flashcards with answers, click on the resource link above. Page 12
Chapter 11: Biochemical Genetics
Available Study Resources on Quizplus for this Chatper
9 Verified Questions
9 Flashcards
Source URL: https://quizplus.com/quiz/42201
Sample Questions
Q1) What pattern of inheritance is most often associated with disorders of mitochondrial function?
A) Autosomal dominant
B) Autosomal recessive
C) Maternal inheritance
D) X-linked dominant
E) X-linked recessive
Q2) Deficiency for what enzyme is the most common cause of female genital virilization?
A) 11b-hydroxylase
B) Desmolase
C) 3b-hydroxysteroid dehydrogenase
D) 5a-reductase
E) 21-hydroxylase
Q3) What is the primary defect causing familial hypercholesterolemia?
A) Defective or deficient LDL receptors
B) Defective HMG-CoA reductase
C) Deficiency of acyltransferase
D) Deficiency of phospholipase C
E) Deficiency of hexosaminidase A
To view all questions and flashcards with answers, click on the resource link above.
Page 13
Chapter 12: Pharmacogenetics
Available Study Resources on Quizplus for this Chatper
4 Verified Questions
4 Flashcards
Source URL: https://quizplus.com/quiz/42202
Sample Questions
Q1) When treated with isoniazid,people who are homozygous for an allele associated with low N-acetyltransferase activity are at risk for which of the following?
A) Inability to maintain sufficient levels of isoniazid for treatment
B) Polyneuritis
C) Inability to absorb sufficient isoniazid
D) Hemolysis
E) Sudden death
Q2) For the most effective use of Herceptin in breast cancer treatment,molecular testing for which of the following proteins should be performed before the drug is prescribed?
A) BRCA1
B) BRCA2
C) HER2
D) EGFR
E) MTHFR
To view all questions and flashcards with answers, click on the resource link above. Page 14
Chapter 13: Immunogenetics
Available Study Resources on Quizplus for this Chatper
3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42203
Sample Questions
Q1) For which of the following tissues is homograft rejection not an issue?
A) Bone marrow
B) Liver
C) Kidney
D) Heart
E) Cornea
Q2) Which of the following processes is involved in immunoglobulin gene rearrangement?
A) Meiotic recombination
B) Somatic recombination
C) Nonhomologous end joining
D) Gene synapsis
E) Diakinesis
Q3) Deficiency for which of the following causes severe combined immunodeficiency syndrome?
A) Rhesus factor
B) Adenosine deaminase
C) WAS
D) CD69
E) CYP21
To view all questions and flashcards with answers, click on the resource link above. Page 15
Chapter 14: Cancer Genetics
Available Study Resources on Quizplus for this Chatper
8 Verified Questions
8 Flashcards
Source URL: https://quizplus.com/quiz/42204
Sample Questions
Q1) How is the translocation between chromosomes 8 and 14 thought to cause Burkitt lymphoma?
A) It puts a proto-oncogene downstream of a strong promoter
B) It fuses a proto-oncogene with another protein and alters its activity
C) It deletes its opposing tumor suppressor
D) It deletes a regulatory region for the gene
E) It removes its 3' UTR
Q2) In addition to mutations in the coding region and regulatory elements,oncogenes often arise by which mechanism?
A) Gene amplification
B) Loss of heterozygosity
C) Splice mutations
D) Interstitial deletions
E) Nondisjunction
Q3) Which of the following epigenetic modifications is associated with cancer?
A) DNA hypermethylation
B) DNA hypomethylation
C) Histone hypoacetylation
D) All of the above
E) None of the above
To view all questions and flashcards with answers, click on the resource link above. Page 16
Chapter 15: Genetic Factors in Common Diseases
Available Study Resources on Quizplus for this Chatper
7 Verified Questions
7 Flashcards
Source URL: https://quizplus.com/quiz/42205
Sample Questions
Q1) Which of the following classes of proteins has been associated with several genetic forms of epilepsy?
A) Transcription factors
B) Chaperones
C) Mitochondrial proteins
D) Ion channels
E) Growth factor receptors
Q2) Why is population genetic screening for hemochromatosis not recommended?
A) The low frequency of carriers
B) No treatment is available
C) High allelic heterogeneity
D) Because it manifests only late it life
E) Low penetrance of the mutations
Q3) One could best tease apart the genetic and environmental causes of a trait through comparisons of which of the following groups?
A) First-degree relatives versus second-degree relatives
B) Sisters versus brothers
C) Monozygotic versus dizygotic twins
D) Parents versus children
E) Twins versus siblings
To view all questions and flashcards with answers, click on the resource link above. Page 17
Chapter 16: Congenital Abnormalities and Dysmorphic Syndromes
Available Study Resources on Quizplus for this Chatper
5 Verified Questions
5 Flashcards
Source URL: https://quizplus.com/quiz/42206
Sample Questions
Q1) What causes a "sequence" of multiple abnormalities?
A) A single gene that is expressed in several tissues
B) A single disruptive force that acts in multiple areas of the body
C) A cascade of events initiating from one initial insult
D) A genetic deletion that includes multiple genes
E) Aneuploidy
Q2) A disruption is a type of variation that is characterized by
A) Destruction or interruption of intrinsically normal tissue
B) An underlying genetic mechanism
C) An abnormal developmental process
D) High recurrence risk
E) A cluster of defects
Q3) Which of the following is NOT associated with teratogenic effects?
A) Folic acid consumption
B) Hyperthermia
C) Toxoplasmosis infection
D) Radiation exposure
E) Alcohol consumption
To view all questions and flashcards with answers, click on the resource link above. Page 18
Chapter 17: Genetic Counseling
Available Study Resources on Quizplus for this Chatper
2 Verified Questions
2 Flashcards
Source URL: https://quizplus.com/quiz/42207
Sample Questions
Q1) Which of the following should be a feature of genetic counseling sessions?
A) A follow-up letter should be given to the consultand to help with information recall
B) It should be nondirective
C) Risk figures should be conveyed in a manner that gives them context
D) Technical terms should be used sparingly and should be thoroughly defined
E) All of the above
Q2) If we assume that the average person carries one deleterious autosomal recessive mutation,what is the risk that the child of an uncle-niece mating will be homozygous for one of the mutations present in the parents of the child's father?
A) 1/64
B) 1/32
C) 1/16
D) 1/11
E) 1/8
To view all questions and flashcards with answers, click on the resource link above. Page 19
Chapter 18: Chromosome Disorders
Available Study Resources on Quizplus for this Chatper
10 Verified Questions
10 Flashcards
Source URL: https://quizplus.com/quiz/42208
Sample Questions
Q1) Which of the following is a major risk factor for Down syndrome?
A) Folic acid exposure
B) Hyperthermia during the first trimester
C) Toxoplasmosis infection during pregnancy
D) Advanced maternal age
E) Any of the above
Q2) Which of the following is true of Fragile X syndrome?
A) Affected individuals have testicular atrophy beginning at puberty
B) Accurate prenatal diagnosis of full-mutation females is available
C) Premutation carriers show no phenotypic effects
D) Expansion of premutation alleles occurs primarily during spermatogenesis
E) It is almost always associated with a trinucleotide expansion in the 5' untranslated portion of FMR1
Q3) Which of the following is the most common inherited cause of learning difficulties?
A) Fragile X syndrome
B) Down syndrome
C) Turner syndrome
D) Klinefelter syndrome
E) Williams syndrome
To view all questions and flashcards with answers, click on the resource link above. Page 20
Chapter 19: Single-Gene Disorders
Available Study Resources on Quizplus for this Chatper
10 Verified Questions
10 Flashcards
Source URL: https://quizplus.com/quiz/42209
Sample Questions
Q1) Which of the following is true of CFTR mutations?
A) Mutations affecting the function of CFTR are always associated with a classic CF phenotype
B) There are clear genotype-phenotype correlations for CFTR mutations
C) Mutations can present as congenital bilateral absence of the vas deferens as the sole phenotype
D) The IVS8 9T variant allele causes classic CF
E) Pancreatic insufficiency is rarely found in people with the DF508 mutation
Q2) The reciprocal deletion of the duplication causing hereditary and motor-sensory neuropathy is associated with what phenotype?
A) Normal phenotype
B) Recurrent miscarriages
C) Charcot-Marie-Tooth disease
D) Pain insensitivity
E) Hereditary neuropathy with pressure palsies
To view all questions and flashcards with answers, click on the resource link above. Page 21
Chapter 20: Screening for Genetic Disease
Available Study Resources on Quizplus for this Chatper
1 Verified Questions
1 Flashcards
Source URL: https://quizplus.com/quiz/42210
Sample Questions
Q1) Which of the following criteria should be met for a disorder to be included in a newborn screening program?
A) The disorder must be fairly common
B) The test for the disorder must have high sensitivity
C) The test for the disorder must have high specificity
D) There must be an intervention available for the disorder
E) All of the above
To view all questions and flashcards with answers, click on the resource link above.
Chapter 21: Prenatal Testing and Reproductive Genetics
Available Study Resources on Quizplus for this Chatper
4 Verified Questions
4 Flashcards
Source URL: https://quizplus.com/quiz/42211
Sample Questions
Q1) Which of the following is used as a prenatal screen for Down syndrome?
A) Ultrasonography for polydactyly
B) Ultrasonography for increased nuchal translucency
C) Increased maternal serum AFP
D) Ultrasonography for brain malformations
E) All of the above
Q2) Which of the following is a disadvantage of chorionic villus sampling compared to amniocentesis?
A) The need to culture cells before diagnostics can be performed
B) CVS is done later in pregnancy than amniocentesis
C) Higher rates of complication
D) Biochemical analyses cannot be performed on CVS samples
E) Fewer chromosomes can be analyzed specifically
Q3) Detection of a rocker-bottom foot on ultrasonography is suggestive of which chromosomal abnormality?
A) Trisomy 21
B) Trisomy 18
C) Trisomy 13
D) Philadelphia chromosome
E) Monosomy X
To view all questions and flashcards with answers, click on the resource link above. Page 23
Chapter 22: Risk Calculation
Available Study Resources on Quizplus for this Chatper
4 Verified Questions
4 Flashcards
Source URL: https://quizplus.com/quiz/42212
Sample Questions
Q1) A couple would like to have 3 children,all boys.If they do,in fact,have 3 children,what is the probability that they will all be boys?
A) 1/8
B) 1/6
C) 1/4
D) 1/3
E) 1/2
Q2) A 40-year-old woman is concerned for the health of her child because her own father died of Huntington's disease.The consultand currently has no signs of Huntington's disease himself.If we assume the age-dependent penetrance of Huntington's disease is 20% at age 40,what is the prior probability that the child will have inherited the disease?
A) 1/9
B) 2/9
C) 1/4
D) 1/3
E) 1/2
To view all questions and flashcards with answers, click on the resource link above.
Chapter 23: Treatment of Genetic Disease
Available Study Resources on Quizplus for this Chatper
3 Verified Questions
3 Flashcards
Source URL: https://quizplus.com/quiz/42213
Sample Questions
Q1) According to our current understanding,what makes embryonic stem cells unique compared to other stem cells?
A) They can be engineered to express exogenous DNA
B) Larger DNA segments can be expressed in them
C) They are not rejected by the immune system
D) They can differentiate into any cell type
E) If injected into the bloodstream, they will home to the appropriate location in the body
Q2) How might antisense oligonucleotides be used to alleviate the severity of Duchenne muscular dystrophy?
A) By causing the degradation of mutant transcripts
B) By upregulating the expression of the mutant gene
C) By blocking the transcription of the mutant gene
D) By replacing the mutant sequence
E) By blocking exon splice enhancers so that the exon containing the mutation is skipped
To view all questions and flashcards with answers, click on the resource link above.
Chapter 24: Ethical and Legal Issues in Medical Genetics
Available Study Resources on Quizplus for this Chatper
1 Verified Questions
1 Flashcards
Source URL: https://quizplus.com/quiz/42214
Sample Questions
Q1) Under what condition is it recommended that genetic testing of children be available?
A) Whenever it is requested
B) When the parents request it
C) When there is a medical benefit to the testing
D) When the parents want to know risks to future children
E) None of the above
To view all questions and flashcards with answers, click on the resource link above.