Summary

This quiz contains multiple-choice questions on topics including DNA structure, mutations, and genetic polymorphisms. The questions cover various aspects of genetic variation and their significance in understanding biological processes.

Full Transcript

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

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