Genomics: GWAS and Genotyping Quiz
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Questions and Answers

What is the focus of pharmacogenomics?

  • Regulation of miRNA-encoding genes
  • Genotyping chip precision
  • Influence of genetic variation on drug response (correct)
  • The study of rare variants

Which type of diseases are associated with single gene disorders?

  • Complex multifactorial diseases
  • Hypercholesterolemia
  • Cystic fibrosis (correct)
  • Diabetes

What is the potential problem with some GWAS findings?

  • They lack statistical power
  • They are unable to identify rare variants
  • They do not explain heritability (correct)
  • They focus solely on single gene disorders

What is the main difference between pharmacogenomics and pharmacogenetics?

<p>Pharmacogenomics focuses on genome-level influence on drug response, while pharmacogenetics targets single genes (D)</p> Signup and view all the answers

What is the role of SNPs in altering drug efficacy according to the text?

<p>SNPs alter proteins and may decrease drug binding, resulting in drug inefficacy (B)</p> Signup and view all the answers

In what percentage of the population do naturally occurring SNPs exist?

<p>1% (C)</p> Signup and view all the answers

Which study type is used to explore the missing heritability in genetic studies?

<p>Twin studies (C)</p> Signup and view all the answers

What is the focus of genome-wide association studies (GWAS)?

<p>Identifying common variants associated with complex multifactorial diseases (B)</p> Signup and view all the answers

What do rare variants refer to in the context of genetic studies?

<p>Variants not covered by GWAS present in specific families (A)</p> Signup and view all the answers

What is the role of epigenetic effects in heredity according to the text?

<p>Heredity is not solely in the genome but also at the epigenetic level (D)</p> Signup and view all the answers

What does GWAS stand for in genetic research?

<p>Genome-Wide Association Studies (B)</p> Signup and view all the answers

Which branch of pharmacology aims to predict personalized treatment based on genome sequence/expression profile?

<p>Pharmacogenomics (A)</p> Signup and view all the answers

Which enzyme is responsible for metabolizing most clinically important drugs?

<p>Cytochrome oxidase P450 enzymes (D)</p> Signup and view all the answers

What is the effect of aberrant Her-2 gene?

<p>Overexpression of cell surface receptor required for cell growth (C)</p> Signup and view all the answers

What is the implication of personalized genomic medicine?

<p>Each person’s individual genome will be part of their medical care (C)</p> Signup and view all the answers

What is the function of Trastuzumab (Herceptin)?

<p>Blocks the surface receptor given that you have the aberrant Her-2 gene variant (A)</p> Signup and view all the answers

What is the significance of SNPs in the GLCC1 gene for asthma patients?

<p>May lead to patients being sensitive to steroids (A)</p> Signup and view all the answers

What type of polymorphism is a single base variation?

<p>Single nucleotide polymorphism (SNP) (A)</p> Signup and view all the answers

Which type of polymorphism involves variations in regions of DNA that involve multiple copies of genes?

<p>Copy number variation (CNV) (C)</p> Signup and view all the answers

What is the minimum number of STRs required for DNA fingerprinting in forensics?

<p>13 (C)</p> Signup and view all the answers

What does CODIS stand for in DNA forensics?

<p>Combined DNA Index System (A)</p> Signup and view all the answers

What type of genetic marker is inherited from father to son?

<p>Y chromosome (D)</p> Signup and view all the answers

What factor may not be included in consumer genetics reports when assessing disease risk?

<p>Environmental factors (D)</p> Signup and view all the answers

What effect does TPMT activity have on the drug 6-MP for acute lymphoblastic leukemia?

<p>Affects drug efficacy and dosage requirement (D)</p> Signup and view all the answers

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