Genomics and GWAS Quiz
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Questions and Answers

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

  • Enhanced muscle growth
  • Increased risk of developing cancer
  • Protein alteration may occur (correct)
  • Decreased sensitivity to pain
  • How does Thiopurine S-methyltransferase (TPMT) activity affect the efficacy of 6-MP drug?

  • It enhances the drug's potency
  • It has no impact on the drug's efficacy
  • It reduces the drug's toxicity
  • It affects the drug's efficacy based on metabolism rate (correct)
  • What is the function of Herceptin (trastuzumab) in relation to the aberrant Her-2 gene?

  • It inhibits the normal functioning of the gene
  • It blocks the overexpressed cell surface receptor (correct)
  • It enhances the expression of the aberrant gene
  • It has no impact on the gene
  • What is the role of Cytochrome oxidase P450 enzymes in drug metabolism?

    <p>Responsible for metabolizing most clinically important drugs</p> Signup and view all the answers

    What is the potential implication of personalized genomic medicine?

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

    What is the main concern associated with genomic testing according to the text?

    <p>Possibility of genetic discrimination</p> Signup and view all the answers

    What is the basis for human genetic diversity as mentioned in the text?

    <p>Single nucleotide polymorphisms (SNPs)</p> Signup and view all the answers

    What is the purpose of DNA fingerprinting as mentioned in the text?

    <p>Scanning of marker regions that vary from person to person</p> Signup and view all the answers

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

    <p>13</p> Signup and view all the answers

    What is the role of copy number variation (CNV) in human genetic diversity?

    <p>It represents regions with varying copies of DNA segments</p> Signup and view all the answers

    What is the potential application of human genetic diversity in forensics?

    <p>DNA fingerprinting for identification</p> Signup and view all the answers

    What does GWAS stand for?

    <p>Genome-wide association studies</p> Signup and view all the answers

    What is the main focus of pharmacogenomics?

    <p>Influence of genetic variation on drug response</p> Signup and view all the answers

    What is the difference between pharmacogenomics and pharmacogenetics?

    <p>Pharmacogenomics deals with genome-level influence on drug response, while pharmacogenetics focuses on single gene targets</p> Signup and view all the answers

    What is the purpose of genotyping chips in the context of GWAS?

    <p>To analyze genetic variations across the genome</p> Signup and view all the answers

    What is the main concern regarding some GWAS findings?

    <p>They do not explain heritability</p> Signup and view all the answers

    What is the focus of pharmacogenetics?

    <p>Influence of genetic variation on drug response at the single gene level</p> Signup and view all the answers

    What is the primary concern with rare variants in the context of GWAS?

    <p>They are not covered by GWAS, as every family may have its own mutation</p> Signup and view all the answers

    What is the aim of precision/personalized medicine in the context of GWAS?

    <p>To tailor medical treatment based on an individual's genetic profile</p> Signup and view all the answers

    What is the significance of SNPs in the context of GWAS?

    <p>They can disrupt the regulation of genes expressed in diseased states</p> Signup and view all the answers

    What is the primary focus of twin studies in the context of GWAS?

    <p>To assess the heritability of specific traits or diseases</p> Signup and view all the answers

    Study Notes

    Genomics and Pharmacogenomics Overview

    • Genome-wide association studies (GWAS) examine SNPs to understand gene regulation in diseases like diabetes type 2
    • GWAS identify common genetic variants, but not all heritability is explained, especially in complex diseases like diabetes
    • Pharmacogenomics aims to predict drug response based on genetic variation for personalized treatment
    • SNPs can alter protein function, affecting drug efficacy, such as in asthma patients with SNPs in the GLCC1 gene
    • Pharmacogenomics has applications in modifying drug dosage or prescribing alternative drugs for personalized treatment
    • Examples of pharmacogenomics applications include 6-MP for acute lymphoblastic leukemia and Trastuzumab for Her-2 gene variants
    • Cytochrome P450 enzyme variants can affect drug metabolism and response, influencing personalized medicine
    • Personalized genomic medicine is based on individual genome for medical care, with implications for precision medicine and consumer genomics
    • The Filipino Genome Research Project aims to study the genomic diversity among ethnolinguistic groups in the Philippines
    • Genomic testing raises concerns about education, insurance coverage, unwanted information, and genetic discrimination
    • Genetic polymorphisms include single nucleotide polymorphisms (SNPs) and copy number variations (CNV), which contribute to human genetic diversity
    • DNA fingerprinting uses genetic variations for identification and forensics, with a minimum number of loci required for accurate testing.

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    Description

    Test your knowledge of genomics and genome-wide association studies (GWAS) with this quiz. Explore topics such as SNPs for miRNA-encoding gene, genotyping chips, precision/personalized medicine, 23andMe, single gene disorders like cystic fibrosis, and complex multifactorial diseases.

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