Human Genome Project overview MCQs With Answer

Human Genome Project overview MCQs With Answer

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Human Genome Project overview MCQs With Answer

This set of MCQs is designed for M.Pharm students to consolidate understanding of the Human Genome Project (HGP) and its direct relevance to pharmaceutical biotechnology. The questions probe sequencing strategies, mapping and assembly concepts, reference genome structure, polymorphisms, and ethical-legal-social implications, while emphasizing practical applications for drug discovery, pharmacogenomics and biomarker development. Each item is crafted to reinforce analytical reasoning about how HGP outputs — reference sequences, SNP maps, and annotation resources — translate into target identification, ADME gene evaluation and personalized therapy. Use these questions to prepare for examinations and to bridge genomic knowledge with real-world pharmaceutical research.

Q1. Which of the following best describes the primary goal of the Human Genome Project?

  • To sequence all human exons only
  • To sequence the entire human genome and produce a high-quality reference sequence
  • To sequence the genomes of model organisms instead of humans
  • To identify only disease-causing mutations in select genes

Correct Answer: To sequence the entire human genome and produce a high-quality reference sequence

Q2. What sequencing strategy was employed predominantly in the original HGP effort known as the “clone-by-clone” approach?

  • Whole-genome shotgun sequencing with small randomized fragments
  • Long-read single-molecule real-time sequencing
  • Map-based (clone-by-clone) sequencing using large-insert clones such as BACs
  • Targeted exome capture and sequencing

Correct Answer: Map-based (clone-by-clone) sequencing using large-insert clones such as BACs

Q3. Which molecule and method formed the backbone of HGP-era sequencing technology?

  • Nanopore sequencing of native DNA
  • Sanger dideoxy chain-termination sequencing
  • Illumina short-read sequencing by synthesis
  • Mass spectrometry-based sequencing

Correct Answer: Sanger dideoxy chain-termination sequencing

Q4. In genome assembly terminology, what is a “contig”?

  • A scaffold made from linkage maps and genetic markers
  • A contiguous sequence of overlapping reads without gaps
  • A single short read output from a sequencer
  • A chromosome-level assembled sequence with no gaps

Correct Answer: A contiguous sequence of overlapping reads without gaps

Q5. Which type of genetic variation was a major focus for building population resources after the HGP, pivotal for pharmacogenomics?

  • Chromosomal translocations
  • Single nucleotide polymorphisms (SNPs)
  • Mitochondrial heteroplasmy only
  • Large microsatellite expansions exclusively

Correct Answer: Single nucleotide polymorphisms (SNPs)

Q6. The HGP created reference assemblies. Which of the following is a realistic limitation of a single reference genome for diverse human populations?

  • The reference contains every structural variant present in all populations
  • A single reference inadequately captures population-specific structural variants and haplotypes
  • The reference completely eliminates the need for resequencing studies
  • The reference is sufficient for pharmacogenomics across all ethnic groups without adjustment

Correct Answer: A single reference inadequately captures population-specific structural variants and haplotypes

Q7. Which public database was widely used to deposit sequence data produced by the HGP?

  • PubChem
  • GenBank
  • ClinicalTrials.gov
  • DrugBank

Correct Answer: GenBank

Q8. The HGP included an ELSI program. What does ELSI stand for and why is it important for pharmaceutical practice?

  • Ethical, Legal, and Social Implications — it addresses privacy, consent and equitable access that affect clinical use of genomic data
  • Environmental, Laboratory, Safety, and Infrastructure — it focuses on lab safety procedures
  • Economic, Legal, Systemic, and Industrial — it primarily governs patent law in pharma
  • Educational, Learning, Science, and Innovation — it funds genomics education only

Correct Answer: Ethical, Legal, and Social Implications — it addresses privacy, consent and equitable access that affect clinical use of genomic data

Q9. Which sequencing metric describes the average number of times a nucleotide is read during sequencing and affects variant calling accuracy?

  • Read length
  • Coverage (depth)
  • Contig N50
  • Insert size

Correct Answer: Coverage (depth)

Q10. Which HGP-derived resource directly accelerated identification of genes influencing drug metabolism (ADME genes)?

  • Reference genome sequence and SNP catalogs enabling pharmacogenomic association studies
  • Environmental impact reports from sequencing centers
  • Protein crystallography repository only
  • Exclusive focus on noncoding RNA databases

Correct Answer: Reference genome sequence and SNP catalogs enabling pharmacogenomic association studies

Q11. What is the main distinction between linkage analysis and association studies in locating disease-related loci post-HGP?

  • Linkage uses high-density SNP arrays in unrelated individuals; association uses family pedigrees
  • Linkage relies on familial co-segregation of markers; association tests allele frequency differences in populations
  • Linkage detects only mitochondrial variants; association detects only exonic variants
  • Linkage requires whole-genome sequencing, association does not

Correct Answer: Linkage relies on familial co-segregation of markers; association tests allele frequency differences in populations

Q12. Why were centromeres and telomeres difficult to sequence and assemble in the HGP?

  • They contain highly repetitive sequences that confound short-read assembly algorithms
  • They are composed solely of protein and cannot be sequenced
  • They degrade immediately after DNA extraction making sequencing impossible
  • They are not present in somatic cells used for sequencing

Correct Answer: They contain highly repetitive sequences that confound short-read assembly algorithms

Q13. How did the HGP impact target discovery processes in pharmaceutical R&D?

  • By eliminating the need for in vitro target validation
  • By providing comprehensive gene catalogs, functional annotation and variant maps to prioritize biologically relevant targets
  • By replacing small molecule screening with whole-genome editing exclusively
  • By demonstrating that genomics has no role in drug target identification

Correct Answer: By providing comprehensive gene catalogs, functional annotation and variant maps to prioritize biologically relevant targets

Q14. Which post-HGP project aimed to identify functional elements (e.g., regulatory regions, promoters) across the genome and is relevant to drug target regulation?

  • HapMap Project
  • ENCODE (Encyclopedia of DNA Elements)
  • 1000 Genomes Project
  • Protein Data Bank (PDB)

Correct Answer: ENCODE (Encyclopedia of DNA Elements)

Q15. The HapMap project complemented the HGP. What was its primary contribution to pharmacogenomics?

  • Sequencing entire genomes of all species
  • Cataloguing common patterns of linkage disequilibrium and haplotypes across populations to facilitate association mapping
  • Generating three-dimensional protein structures for drug design
  • Developing clinical trial protocols for genomic drugs

Correct Answer: Cataloguing common patterns of linkage disequilibrium and haplotypes across populations to facilitate association mapping

Q16. Which of these is a direct consequence of identifying SNP variants in drug-metabolizing enzymes?

  • Immediate removal of the drug from the market
  • Enabling genotype-guided dosing and identifying patients at risk for adverse drug reactions
  • Making therapeutic drug monitoring obsolete
  • Ensuring identical pharmacokinetics across all patients

Correct Answer: Enabling genotype-guided dosing and identifying patients at risk for adverse drug reactions

Q17. What role do copy number variations (CNVs) discovered after the HGP play in pharmacogenomics?

  • CNVs are irrelevant to gene expression and drug response
  • CNVs can alter gene dosage of drug targets or metabolizing enzymes, affecting phenotype and drug response
  • CNVs only affect mitochondrial genes and thus are not pharmacologically important
  • CNVs always lead to complete gene loss and cannot be clinically significant

Correct Answer: CNVs can alter gene dosage of drug targets or metabolizing enzymes, affecting phenotype and drug response

Q18. Which assembly statistic provides a single-value summary of contiguity that is commonly reported for genome assemblies?

  • GC content percentage
  • N50 (contig or scaffold N50)
  • Average read error rate
  • Heterozygosity index

Correct Answer: N50 (contig or scaffold N50)

Q19. Exome sequencing focuses on protein-coding regions. Compared to whole-genome sequencing, what is a principal advantage for pharmacogenetic studies?

  • Exome sequencing requires more data storage and is costlier than whole-genome sequencing
  • Exome sequencing enriches for coding variants where many drug-response alleles are located, offering cost-effective detection of functional variants
  • Exome sequencing captures regulatory noncoding variants better than whole-genome sequencing
  • Exome sequencing cannot detect rare variants

Correct Answer: Exome sequencing enriches for coding variants where many drug-response alleles are located, offering cost-effective detection of functional variants

Q20. Which observation from the HGP fundamentally changed approaches to precision medicine and individualized drug therapy?

  • All humans have identical genomes with no meaningful variation
  • Human genetic variation is pervasive; comprehension of individual genomes and variants enables stratified therapies and pharmacogenomic tailoring
  • Genomic information cannot be integrated into clinical decision-making
  • Only rare monogenic disorders are influenced by genome sequence

Correct Answer: Human genetic variation is pervasive; comprehension of individual genomes and variants enables stratified therapies and pharmacogenomic tailoring

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