Quiz 2 PDF

1. What does DNA sequence refer to? ○ A) The order of amino acids in proteins ○ B) The order of nucleotides in a DNA molecule ○ C) The three-dimensional structure of DNA ○ D) The process of DNA replication ○ Correct Answer: B 2. Which nucleotide is part of the DNA sequ...

1. What does DNA sequence refer to? ○ A) The order of amino acids in proteins ○ B) The order of nucleotides in a DNA molecule ○ C) The three-dimensional structure of DNA ○ D) The process of DNA replication ○ Correct Answer: B 2. Which nucleotide is part of the DNA sequence? ○ A) U ○ B) A ○ C) Z ○ D) E ○ Correct Answer: B 3. What are amino acid polymorphisms? ○ A) Changes in the DNA sequence ○ B) Variations in the amino acid sequence of a protein that occur commonly within a population ○ C) Changes in the structure of DNA molecules ○ D) Differences in RNA sequences ○ Correct Answer: B 4. What impact do amino acid variants generally have? ○ A) Always pathogenic ○ B) Only benign ○ C) Can be benign, pathogenic, or have uncertain significance ○ D) Always neutral ○ Correct Answer: C 5. What characterizes a polymorphism in terms of population frequency? ○ A) Rare (1% of individuals) ○ C) Never causes diseases ○ D) Only found in specific tissues ○ Correct Answer: B 6. What is STR in DNA sequence variation? ○ A) Single Nucleotide Polymorphism ○ B) Copy Number Variation ○ C) Simple Tandem Repeat ○ D) Structural Variation ○ Correct Answer: C  7. An example of an SNP would be: ○ A) A segment of DNA that is duplicated ○ B) A single base change like A/T or G/C ○ C) A short sequence of DNA that is repeated ○ D) A sequence of DNA that is deleted ○ Correct Answer: B 8. Missense mutation can result in: ○ A) No change in amino acid sequence ○ B) A premature stop codon ○ C) A different amino acid in the protein sequence ○ D) A frameshift in the coding sequence ○ Correct Answer: C 9. What is a nonsense mutation? ○ A) A mutation that causes no change in the protein length ○ B) A mutation that results in a premature stop codon ○ C) A mutation that adds extra nucleotides ○ D) A mutation that affects mRNA splicing ○ Correct Answer: B 10. How can you distinguish a disease-causing mutation from a neutral DNA sequence variation? ○ A) By DNA sequencing ○ B) By functional analysis of gene product ○ C) By observing genetic changes in a family ○ D) All of the above ○ Correct Answer: D Lecture 2: Basic Anatomy of the Human Genome 11. What is the complete set of DNA in an organism referred to as? ○ A) Chromosome ○ B) Gene ○ C) Genome ○ D) Nucleus ○ Correct Answer: C 12. Which among the following consists of non-coding DNA? ○ A) Exons ○ B) Genes ○ C) Introns  ○ D) Chromosomes ○ Correct Answer: C 13. Repetitive sequences play roles in: ○ A) Encoding proteins ○ B) Gene regulation and genome stability ○ C) DNA replication ○ D) RNA transcription ○ Correct Answer: B 14. Comparative genomics within species can reveal: ○ A) Genetic diversity related to adaptation or disease susceptibility ○ B) Differences in organ structures ○ C) Chromosomal folding differences ○ D) Variations in metabolic pathways ○ Correct Answer: A 15. The purpose of GWAS is to: ○ A) Identify structural variations in chromosomes ○ B) Identify genetic variants associated with complex diseases and traits ○ C) Study differences in metabolic rates across species ○ D) Determine the entire DNA sequence of an individual ○ Correct Answer: B 16. Benefits of Next-Gen Sequencing include: ○ A) Enhanced diagnostic accuracy ○ B) Early detection of diseases ○ C) Treatment optimization ○ D) All of the above ○ Correct Answer: D Lecture 3: Populations vs. Individuals 17. What defines a population in genetics? ○ A) A single individual ○ B) A group of individuals ○ C) A specific gene pool ○ D) A single chromosome ○ Correct Answer: B 18. What is allele frequency? ○ A) The number of chromosomes in a population ○ B) The proportion of a particular allele among all allele copies in the population  ○ C) Frequency of genes expressing dominance ○ D) The variability of phenotypes in a population ○ Correct Answer: B 19. Which statement about Hardy-Weinberg equilibrium is true? ○ A) It only applies to small populations. ○ B) It assumes evolutionary forces act on the population. ○ C) It provides a baseline to measure evolutionary changes. ○ D) It describes increasing mutation rates in a population. ○ Correct Answer: C 20. What is genetic drift? ○ A) Random changes in allele frequencies due to chance events ○ B) Consistent changes in genetic sequences due to selection ○ C) Fluctuations in gene expression levels ○ D) Changes in chromosome number within an individual ○ Correct Answer: A Lecture 4: Basic Anatomy of Human Chromosomes 21. What is the centromere? ○ A) The short arm of a chromosome ○ B) The region where chromatids are joined ○ C) The end cap of a chromosome ○ D) The part of the chromosome without genetic material ○ Correct Answer: B 22. A karyotype notation '47,XX+21' indicates: ○ A) A normal karyotype ○ B) A female with an extra chromosome 21 (Down syndrome) ○ C) A male with a missing chromosome ○ D) A female with a chromosome rearrangement ○ Correct Answer: B 23. What technique uses fluorescent probes to bind specific chromosome regions? ○ A) Karyotyping ○ B) PCR ○ C) FISH (Fluorescence In Situ Hybridization) ○ D) Western Blotting ○ Correct Answer: C 24. What can chromosome microarray analysis NOT detect? ○ A) Small deletions and duplications  ○ B) Balanced rearrangements like translocations or inversions ○ C) Copy number variations ○ D) DNA content variations in the genome ○ Correct Answer: B Lecture 5: Clinical Consequences of Chromosomal Disorders 25. What consequence is associated with Turner syndrome (45,X)? ○ A) Short stature and webbed neck ○ B) Tall stature and small testes ○ C) Severe intellectual disability ○ D) Congenital heart defects ○ Correct Answer: A 26. What is a key characteristic of an unbalanced karyotype? ○ A) A normal number of chromosomes ○ B) Loss or gain of chromosomal material ○ C) No clinical consequences ○ D) Presence of all chromosomes in equal proportions ○ Correct Answer: B 27. Which of the following is an example of a copy number variation (CNV)? ○ A) A nucleotide substitution ○ B) A single nucleotide polymorphism ○ C) A segment of DNA that is duplicated ○ D) A frameshift mutation ○ Correct Answer: C Lecture 6 and 7: Medical Genetics Vocabulary 28. What does allelic heterogeneity refer to? ○ A) A single variation in a gene ○ B) Multiple alleles causing the same phenotype ○ C) Variations in multiple genes ○ D) Distinct phenotypes for different alleles ○ Correct Answer: B 29. A genotype describes: ○ A) Observable characteristics of an organism ○ B) The genetic makeup of an individual ○ C) The function of proteins in a cell ○ D) Environmental traits' effect on phenotype  ○ Correct Answer: B 30. Variable expressivity means: ○ A) All individuals with the same genotype have identical phenotypes ○ B) Different phenotypes are observed with the same genotype ○ C) The gene is always expressed ○ D) The environment has no effect on the gene expression ○ Correct Answer: B 31. An autosomal recessive disorder typically shows: ○ A) Vertical transmission in the pedigree ○ B) All affected individuals in every generation ○ C) Disease occurrence mostly in siblings ○ D) A higher frequency of affected males ○ Correct Answer: C Lecture 8: Genetic Anticipation and Mitochondrial Inheritance 32. Genetic anticipation refers to: ○ A) The appearance of a gene disorder at later ages with increasing severity ○ B) The appearance of a gene disorder at earlier ages with increasing severity ○ C) The consistent age of symptom onset ○ D) Random onset of symptoms ○ Correct Answer: B 33. Mitochondrial inheritance is unique because: ○ A) It involves only autosomal chromosomes ○ B) It is inherited maternally ○ C) It shows Mendelian inheritance ○ D) It affects nuclear DNA ○ Correct Answer: B Lecture 9: Association Studies and Multifactorial Inheritance 34. What do GWAS studies look for? ○ A) Specific genes causing single-gene disorders ○ B) Associations between genetic variants and complex diseases ○ C) Chromosomal rearrangements ○ D) Mutations in mitochondrial DNA ○ Correct Answer: B 35. Multifactorial inheritance involves:  ○ A) Single gene mutations ○ B) Multiple genes and environmental factors ○ C) Only environmental factors ○ D) Random mutations without genetic contribution ○ Correct Answer: B Lecture 10: Inborn Errors of Metabolism 36. Inborn errors of metabolism typically involve: ○ A) Deficiency of a specific enzyme ○ B) Excessive cell signaling ○ C) Misfolded proteins ○ D) Abnormal RNA transcription ○ Correct Answer: A 37. What role do environmental factors play in disease expression? ○ A) They have no impact ○ B) They only affect infectious diseases ○ C) They interact with genetics to influence disease severity ○ D) They cause mutations ○ Correct Answer: C Lecture 11: Evidence-Based Medicine and UMMS Cycle 38. The first step in the UMMS EBM cycle is: ○ A) Apply ○ B) Agree ○ C) Acquire ○ D) Ask ○ Correct Answer: D 39. Evidence-Based Medicine integrates: ○ A) Best research evidence alone ○ B) Clinical expertise and patient values ○ C) Only clinical trials results ○ D) Only physician experience ○ Correct Answer: B Lecture 12: Genetic Counseling 40. Genetic counseling primarily aims to:  ○ A) Conduct genetic tests ○ B) Obtain family history ○ C) Help patients understand and adapt to genetic contributions to disease ○ D) Treat genetic disorders ○ Correct Answer: C 41. A common indication for genetic counseling referral is: ○ A) High blood pressure ○ B) Multiple affected family members with the same or related disorders ○ C) Old age ○ D) Frequent colds ○ Correct Answer: B Lecture 13: Gene-/Nucleic Acid-Based Therapies 42. Gene addition therapy aims to: ○ A) Inhibit gene expression ○ B) Increase levels of a protein that is missing or reduced ○ C) Cut out defective genes ○ D) Silence specific genes ○ Correct Answer: B 43. CRISPR-Cas9 primarily acts by: ○ A) Inserting new genes ○ B) Cutting specific DNA sequences ○ C) Blocking mRNA translation ○ D) Adding nucleotides ○ Correct Answer: B 44. One of the main challenges of in vivo gene therapy is: ○ A) Easy delivery to any cell type ○ B) Efficient and targeted delivery without immune response ○ C) Identifying suitable candidate genes ○ D) The low cost of delivery methods ○ Correct Answer: B Lecture 14-16: Cytoskeleton 45. Which of the following is NOT a filament type in the cytoskeleton? ○ A) Actin filaments ○ B) Intermediate filaments ○ C) Microfilaments  ○ D) Collagen fibers ○ Correct Answer: D 46. Actin filaments are known for their: ○ A) Rigidity ○ B) Thick diameter ○ C) Flexibility and involvement in cell motility ○ D) Non-polar nature ○ Correct Answer: C 47. Microtubules primarily function in: ○ A) Compressing cellular organelles ○ B) Maintaining muscle contraction ○ C) Forming the mitotic spindle during cell division ○ D) Forming nuclear lamina ○ Correct Answer: C 48. Intermediate filaments provide: ○ A) Dynamic changes in cell shape ○ B) Flexibility and movement ○ C) Tensile strength to cells ○ D) Filamentous structures for cytoplasmic streaming ○ Correct Answer: C Lecture 17-19: DNA Mutation Types and Meiotic Consequences 49. What is characteristic of silent mutations? ○ A) They always create premature stop codons ○ B) They do not change the amino acid sequence ○ C) They cause frameshifts in protein coding ○ D) They change the reading frame of the gene ○ Correct Answer: B 50. Frameshift mutations typically result in: ○ A) No change in protein length ○ B) A different reading frame for protein synthesis ○ C) Creation of additional amino acids ○ D) Duplication of chromosomal segments ○ Correct Answer: B Lecture 20: Gene Therapy and Pharmacogenetics  51. Pharmacogenetics aims to: ○ A) Understand how genetic variations influence drug responses ○ B) Only study genetic factors in infectious diseases ○ C) Replace faulty genes in patients ○ D) Detect chromosomal abnormalities ○ Correct Answer: A 52. Precision medicine involves: ○ A) Treating all patients with the same standard approach ○ B) Tailoring treatments based on an individual’s genetic profile ○ C) Ignoring genetic variations in treatment plans ○ D) Focusing solely on environmental factors in health ○ Correct Answer: B Lecture 21: Genetic Analysis Techniques 53. What does the term "heterozygous" describe? ○ A) Two identical alleles at a genetic locus ○ B) Two different alleles at a genetic locus ○ C) The full genetic makeup of an individual ○ D) The physical expression of genes ○ Correct Answer: B 54. A common genetic basis for disease can be suggested by: ○ A) Random occurrence of the disease in unrelated populations ○ B) Higher prevalence of the disease in genetically related individuals ○ C) The absence of familial cases ○ D) Uniform disease occurrence across various environmental contexts ○ Correct Answer: B Lecture 22: Genetic Counseling & Medical Genetics 55. Which aspect is not usually part of genetic counseling? ○ A) Interpretation of family and medical histories ○ B) Conducting surgical interventions ○ C) Discussion of benefits, risks, and limitations of genetic testing ○ D) Promotion of informed choices and adaptation to the condition ○ Correct Answer: B 56. Genetic conditions requiring counseling and testing often include: ○ A) Lifestyle-related diseases only  ○ B) Inherited disorders, such as cystic fibrosis and Tay-Sachs disease ○ C) Acute infectious diseases ○ D) Common cold and flu ○ Correct Answer: B Lecture 23: Gene Editing & Cell Therapy 57. Which gene editing tool uses a guide RNA and a Cas9 enzyme? ○ A) ZFN ○ B) TALEN ○ C) CRISPR-Cas9 ○ D) Meganuclases ○ Correct Answer: C 58. CAR-T cell therapy primarily involves: ○ A) Injecting unmodified blood cells ○ B) Using modified T cells to target cancer cells ○ C) Transplanting bone marrow cells without modifications ○ D) Administering antibiotics ○ Correct Answer: B Lecture 24: Advanced Genetic Techniques 59. Which principle best defines "in vivo" gene therapy? ○ A) Genetic modification done outside the living organism ○ B) Transferring cells between different organisms ○ C) Direct delivery of therapeutic agents into the body ○ D) Growing tissues in vitro for repair treatments ○ Correct Answer: C 60. Ex vivo gene therapy typically involves: ○ A) Genetic modifications within the body ○ B) Fixing cellular structures without gene involvement ○ C) Modifying cells outside the body then reintroducing them ○ D) Only dietary and lifestyle changes ○ Correct Answer: C