Human Genome Project Quiz PDF

1. What is the primary purpose of the Human Genome Project? *A. To sequence the euchromatic regions of the genome B. To identify new animal species C. To study the history of DNA sequencing D. To create synthetic genomes 2. When was the Human Genome Project officially declared complete? A. 2...

1. What is the primary purpose of the Human Genome Project? *A. To sequence the euchromatic regions of the genome B. To identify new animal species C. To study the history of DNA sequencing D. To create synthetic genomes 2. When was the Human Genome Project officially declared complete? A. 2000 *B. 2003 C. 1998 D. 2005 3. What percentage of Europeans carry the CHRNA5 gene mutation associated with nicotine dependence? A. 25% *B. 35% C. 50% D. 15% 4. Which gene variants affect the speed of nicotine metabolism? *A. CYP2A6*4C B. CHRNA5-A3-B4 C. DRD4 D. SLC6A3/DAT1 5. What is the function of the Nicotinic acetylcholine receptor CHRNA5-A3-B4 cluster? A. Causes low nicotine dependence *B. Contributes to severe nicotine dependence C. Regulates dopamine metabolism D. Inhibits nicotine metabolism 6. What percentage of the Hungarian Roma population are heavy smokers compared to the general population? A. 56% vs. 31% B. 41% vs. 22% C. 38% vs. 20% *D. 53% vs. 31% 7. Which gene polymorphism is linked to early onset smoking? A. DRD4 *B. DAT (rs27072-A) C. BDNF D. ALDH2 8. What is the significance of the FTO gene? A. It is related to lipid metabolism *B. It influences fat mass and obesity C. It determines nicotine dependency D. It affects alcohol metabolism 9. How many base pairs make up the human genome? A. 1 billion B. 2.5 billion *C. 3 billion D. 3.2 billion 10. What is the main focus of public health genomics? A. To treat cancer patients *B. To identify the interaction of genes with lifestyle and environment on population health C. To study hereditary diseases D. To sequence RNA 11. Which techniques are used in prenatal genetic diagnosis? *A. Amniocentesis, CVS, cordocentesis B. PCR, SNP arrays, microarrays C. Ultrasound only D. FISH only 12. What is the purpose of expanded carrier screening (ECS)? A. To identify all chromosomal abnormalities *B. To screen for severe childhood-onset diseases in carriers C. To replace invasive prenatal diagnostics D. To detect single gene disorders 13. Which year marked the availability of NIPT in Hungary? A. 2008 B. 2010 *C. 2012 D. 2014 14. What proportion of the human genome consists of noncoding regions? A. 50% B. 75% *C. 80% D. 10% 15. Which gene is often associated with alcohol metabolism? *A. ALDH2 B. CHRNA5 C. DRD4 D. FTO 16. What is the role of pharmacogenomics? A. Analyzing protein structures *B. Understanding drug response based on genetics C. Creating synthetic drugs D. Detecting genetic mutations 17. What is a codon? A. A single nucleotide *B. A triplet of bases coding for an amino acid C. A sequence of RNA D. A regulatory DNA sequence 18. Which project aimed to sequence at least one genome per vertebrate genus? A. 1000 Genomes Project B. Vertebrate Genomes Project *C. Genome 10K Project D. Human Genome Project 19. How does fluorescence in situ hybridization (FISH) work? A. Amplifies DNA sequences *B. Uses labeled probes to locate DNA sequences C. Measures protein interactions D. Creates synthetic chromosomes 20. Which sequencing method was used in the Human Genome Project? A. Maxam-Gilbert *B. Sanger sequencing C. NGS D. SNP arrays 21. What are common sources of error in PCR? *A. Mispriming and contamination B. Excessive annealing temperatures C. Lack of dNTPs D. RNA polymerase activity 22. What is a key advantage of capillary electrophoresis in sequencing? *A. It can separate DNA fragments by size B. It identifies entire chromosomes C. It sequences proteins directly D. It requires no reagents 23. Which mutation is linked to severe nicotine dependence? *A. CHRNA5 rs1051730 B. DRD2 Taq1A C. ALDH2*2 D. FTO rs9939609 24. What is the approximate percentage of SNPs in the human genome? *A. 0.1% B. 1% C. 10% D. 25% 25. How many genes does the human genome contain? A. ~10,000 *B. ~22,000 C. ~50,000 D. ~100,000 26. What is the genetic code described as "degenerate"? A. It has overlapping codons *B. More than one codon can code for a single amino acid C. Each codon codes for multiple amino acids D. Codons are prone to errors 27. Which gene cluster is associated with nicotine receptor sensitivity? A. DRD4-ANKK1 *B. CHRNA5-A3-B4 C. ALDH2-FTO D. CYP2A6-MAOA 28. What key marker can indicate prenatal chromosomal anomalies? A. FTO gene variants *B. Non-invasive prenatal testing (NIPT) C. Expanded carrier screening D. Microarray SNP chips 29. What distinguishes euchromatin from heterochromatin? *A. Euchromatin is transcriptionally active, heterochromatin is inactive B. Heterochromatin replicates earlier C. Euchromatin contains telomeres D. Both are transcriptionally inactive 30. Which technique is most efficient for rapid gene expression analysis? A. SNP arrays *B. Microarrays C. PCR D. Southern blotting 31. Which sequencing method uses fluorescent dyes for detection? A. Maxam-Gilbert *B. Sanger sequencing C. Pyrosequencing D. Real-time PCR 32. What is the main application of SNP arrays? A. Identifying DNA-binding proteins *B. Detecting single nucleotide polymorphisms C. Sequencing entire genomes D. Measuring gene expression levels 33. How is trisomy 21 most commonly detected non-invasively? A. Karyotyping *B. NIPT C. Chromosomal microarrays D. PCR 34. What determines the "reading frame" during translation? A. Ribosome binding site *B. Start codon C. mRNA secondary structure D. Anticodon sequence 35. What percentage of base accuracy does Sanger sequencing achieve? A. 95% B. 99% *C. 99.99% D. 100% 36. Which of the following diseases is linked to mutations in the ALDH2 gene? A. Obesity *B. Alcohol intolerance C. Nicotine dependence D. Breast cancer 37. Which technique involves the separation of DNA fragments using an electric field? A. FISH B. PCR *C. Gel electrophoresis D. RT-PCR 38. What is the significance of "ontogenesis recapitulates phylogeny" in genetics? A. It explains gene conservation among species *B. It is an outdated concept linking development to evolution C. It describes genetic mutations over time D. It predicts phenotypic variation 39. Which of the following represents a method of gene annotation? A. RNA splicing *B. Genome browsers like UCSC C. DNA synthesis D. Hybridization probes 40. What does "custom drugs" in pharmacogenomics refer to? A. Synthetic drugs made for general use *B. Drugs tailored to an individual's genetic profile C. Traditional remedies customized for populations D. Antibiotics synthesized from bacterial genomes 41. Which gene is associated with susceptibility to melanoma? *A. MC1R B. FTO C. ALDH2 D. DRD2 42. What type of DNA is found in telomeres? A. Coding DNA *B. Repetitive DNA C. Non-repetitive introns D. Histone-bound DNA 43. Which year marked the discovery of DNA's double helix structure? A. 1950 *B. 1953 C. 1960 D. 1945 44. What are the goals of the Human Genome Project? *A. Identify all 22,000 genes in human DNA *B. Sequence 3 billion base pairs in human DNA C. Study proteins directly linked to diseases D. Map bacterial genomes 45. Which techniques can be used in comparative genomic hybridization (CGH)? A. PCR amplification *B. Fluorescent labeling of DNA samples *C. DNA microarrays D. Chromosome painting 46. Which genes are associated with nicotine dependence? *A. CHRNA5 *B. DRD4 C. ALDH2 D. FTO 47. What information can be obtained from SNP arrays? *A. Single nucleotide polymorphisms *B. Chromosomal copy number variations C. RNA expression levels D. Protein interactions 48. What features differentiate real-time PCR from conventional PCR? *A. Real-time monitoring of DNA amplification *B. Use of fluorescent dyes C. Higher accuracy in detecting RNA D. Lower thermal cycling temperatures 49. Which polymorphisms affect alcohol metabolism? *A. ADH1B Arg47His *B. ALDH2 Glu487Lys C. DRD2 Taq1A D. FTO rs9939609 50. Which diseases have a genetic background linked to dopamine metabolism? *A. Alcoholism *B. Obesity *C. Nicotine addiction D. Cystic fibrosis 51. What are advantages of non-invasive prenatal testing (NIPT)? *A. Early detection of aneuploidies *B. No risk of miscarriage C. Diagnosis of all genetic mutations *D. Simultaneous fetal sex determination 52. What is the purpose of gene expression profiling? *A. To study the activity of thousands of genes simultaneously *B. To distinguish between dividing and non-dividing cells C. To identify SNPs in the genome *D. Predict response to specific treatments 53. Which technologies have accelerated genome-wide studies? *A. Next-generation sequencing (NGS) *B. Massively parallel sequencing C. Single-stranded RNA synthesis D. Capillary electrophoresis 54. What ethical issues are associated with genome research? *A. Privacy of genetic data *B. Potential misuse of genetic information C. Increased costs of treatment *D. Accessibility of personalized therapies 55. Which methods are used to validate findings from SNP analyses? *A. Replication in independent cohorts *B. Meta-analysis of multiple studies *C. Functional assays for SNP effects D. Automated gel electrophoresis 56. How is "personalized medicine" linked to pharmacogenomics? *A. Customizing drugs based on genetic profiles C. Designing universal treatments for populations *C. Predicting adverse drug reactions *D. Reducing trial-and-error in drug prescriptions 57. Which sequencing methods are considered "gold standard" for high accuracy? *A. Sanger sequencing B. Illumina sequencing C. Pyrosequencing *D. Capillary electrophoresis 58. Which environmental factors significantly influence genetic predispositions? *A. Smoking *B. High-fat diet *C. Physical activity *D. Sun exposure 59. What advancements have resulted from the 1000 Genomes Project? *A. Identification of rare genetic variants *B. Better understanding of human genetic diversity C. Mapping of all protein interactions D. Development of new antibiotics 60. What factors contribute to disease susceptibility? *A. Genetic polymorphisms *B. Lifestyle choices *C. Environmental exposures *D. Family history 61. What are potential benefits of CRISPR-Cas9 gene editing? *A. Correction of genetic disorders *B. Enhancement of agricultural crops C. Creation of new viral strains *D. Acceleration of drug development 62. Which factors can lead to epigenetic changes? *A. Dietary habits *B. Exposure to pollutants *C. Physical exercise D. Mutations in non-coding regions 63. Which genetic variations are commonly studied in pharmacogenomics? *A. SNPs *B. Copy number variations (CNVs) C. Chromosomal rearrangements D. Tandem repeats 64. What challenges are associated with gene therapy? *A. Delivery of genetic material to target cells *B. Immune system responses C. Lack of ethical guidelines *D. Off-target genetic modifications 65. Which techniques are used to study protein-DNA interactions? *A. Chromatin immunoprecipitation (ChIP) *B. Electrophoretic mobility shift assay (EMSA) C. Western blotting D. RNA-seq 66. What is the primary focus of epigenomics? A. Changes in DNA sequence *B. Modifications affecting gene expression without altering DNA sequence C. Identification of genetic mutations D. Analysis of protein synthesis 67. Which diseases have been linked to mitochondrial DNA mutations? *A. Alzheimer's disease *C. Mitochondrial myopathy D. Hypertension 68. How can genome-wide association studies (GWAS) impact public health? *A. Identification of genetic risk factors for diseases *B. Development of targeted prevention strategies C. Sequencing entire genomes for all individuals D. Reducing costs of medical research 69. What roles do histones play in chromatin structure? *A. Packaging DNA into nucleosomes *B. Regulating transcriptional activity *C. Facilitating DNA repair D. Stabilizing mRNA molecules 70. Which techniques are used to detect structural variants in genomes? *A. Array comparative genomic hybridization (aCGH) *B. Whole-genome sequencing (WGS) C. Southern blotting D. RNA-seq 71. What are the main types of non-coding RNA? *A. MicroRNA (miRNA) *B. Long non-coding RNA (lncRNA) C. Ribosomal RNA (rRNA) *D. Small nuclear RNA (snRNA) 72. What are common applications of genome editing? *A. Treating inherited diseases *B. Developing animal models for research C. Cloning human embryos *D. Modifying agricultural crops 73. How can polygenic risk scores be used in clinical practice? *A. Predicting susceptibility to complex diseases *B. Personalizing lifestyle interventions C. Identifying carriers of rare diseases *D. Guiding reproductive decisions 74. What are advantages of single-cell sequencing? *A. Analyzing gene expression at the cellular level *B. Detecting rare cell populations C. Determining chromosomal abnormalities *D. Mapping tissue-specific mutations 75. Which environmental exposures can trigger mutagenesis? *A. Ultraviolet (UV) radiation *B. Tobacco smoke *C. Pesticides D. High-fat diets 76. Which factors influence the accuracy of GWAS results? *A. Population size *B. Genetic heterogeneity *C. Environmental variability *D. Selection of study cohorts 77. How do telomeres affect cellular aging? *A. Protecting chromosome ends *B. Shortening with each cell division C. Enhancing transcriptional activity *D. Triggering senescence when critically short 78. Which tools are used in transcriptomics? *A. RNA-seq *B. Microarrays C. Northern blotting D. SNP genotyping 79. What are characteristics of genetic drift? *A. Random changes in allele frequency *B. Stronger effects in small populations C. Dependence on selective pressure *D. Contribution to genetic variation 80. What can be inferred from linkage disequilibrium studies? *A. Association between genetic variants *B. Recombination rates in populations C. Functional roles of non-coding regions *D. Evolutionary relationships 81. Which pathways are commonly deregulated in cancer? *A. Cell cycle regulation *B. DNA repair mechanisms C. Immune response pathways *D. Chromatin remodeling 82. What are major features of next-generation sequencing (NGS)? *A. High-throughput data generation C. Real-time sequencing *C. Reduced sequencing costs *D. Single-molecule resolution 83. Which genetic variations are analyzed in cytogenetics? *A. Chromosomal translocations B. Gene duplications C. SNPs *D. Aneuploidy 84. How can epigenetic changes be reversed? *A. DNA methylation inhibitors *B. Histone deacetylase inhibitors C. CRISPR gene editing D. Recombinant proteins 85. What are applications of proteogenomics? *A. Linking gene expression to protein functions *B. Understanding disease mechanisms *C. Designing targeted therapies D. Developing synthetic genomes 86. What are limitations of current gene therapy approaches? A. Short-term effects *B. Challenges in gene delivery C. Lack of regulatory frameworks *D. Risk of insertional mutagenesis 87. Which molecular markers are used in phylogenetics? *A. Ribosomal RNA genes *B. Mitochondrial DNA *C. Microsatellites D. Non-coding RNA 88. What are the hallmarks of apoptosis? *A. Chromatin condensation B. Cell membrane rupture *C. DNA fragmentation *D. Activation of caspases 89. How do genetic bottlenecks affect populations? *A. Reduce genetic diversity *B. Increase inbreeding *C. Enhance allele fixation D. Accelerate mutation rates 90. What are challenges in interpreting polygenic risk scores? *A. Limited understanding of gene-environment interactions *B. Population bias in genetic studies *C. Variability in phenotype expression *D. Overestimation of predictive power 91. What are benefits of integrating public health genomics into healthcare systems? *A. Improved disease prevention strategies *B. Enhanced diagnosis of rare diseases *C. Reduced healthcare costs D. Immediate cure for all genetic conditions 92. Which technologies are essential for public health genomics research? *A. High-throughput sequencing *B. SNP arrays *C. CRISPR-Cas9 D. Mass spectrometry 93. What is the primary challenge in implementing genomics in low-resource settings? *A. Lack of trained personnel *B. High cost of genomic technologies *C. Ethical concerns about data privacy D. Lack of genetic variation in populations 94. How can genome sequencing improve infectious disease control? *A. Identifying pathogen genomes *B. Tracking disease outbreaks C. Developing vaccines *D. Predicting pathogen resistance 95. What is the role of genetic counseling in public health genomics? *A. Educating patients about genetic risks *B. Guiding clinical decision-making C. Preventing hereditary conditions *D. Ensuring equitable access to genomic services 96. Which factors influence the implementation of pharmacogenomics? *A. Physician awareness *B. Patient education *C. Availability of genetic testing D. Economic incentives for healthcare providers 97. Which diseases are commonly studied in gene-environment interaction research? *A. Cardiovascular diseases *B. Diabetes *C. Chronic respiratory diseases D. Hemophilia 98. What is a significant ethical issue in public health genomics? *A. Genetic discrimination *B. Privacy of genetic data *C. Equity in accessing genomic services D. Oversupply of genetic counselors 99. How does the study of epigenetics contribute to public health genomics? *A. Understanding gene-environment interactions *B. Identifying reversible modifications to DNA *C. Developing targeted lifestyle interventions D. Sequencing non-coding regions 100. Which aspects are critical in designing genomic epidemiology studies? *A. Representativeness of study cohorts *B. Robust statistical methods *C. Integration of genomic and environmental data D. Short study duration