Pharmacogenetics and Genetics Overview
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Questions and Answers

What are the building blocks of DNA and RNA called?

  • Chromosomes
  • Genes
  • Nucleotides (correct)
  • Alleles

    • Humans carry 46 chromosomes in each cell, which are arranged in 22 pairs.

    False

    What is the most common form of mutation known as?

    single nucleotide polymorphisms (SNPs)

    The physical expression of traits is known as the ______.

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

    Match the following terms with their correct descriptions:

    <p>Gene = Instructions for features and characteristics Allele = Different forms of a gene Genotype = Genetic make-up of an organism Mutation = Change in the DNA sequence</p> Signup and view all the answers

    Which base pairs are found in DNA?

    <p>A-T and G-C</p> Signup and view all the answers

    Polymorphisms in genes have no impact on individuals' responses to medications.

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

    What is the primary metabolism mechanism for Irinotecan that converts it into its active form?

    <p>Hydroxylation by carboxylesterases</p> Signup and view all the answers

    Patients with reduced UGT1A1 activity are recommended a higher dose of Irinotecan.

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

    What are the main drugs associated with Thiopurine Methyltransferase (TPMT) metabolism?

    <p>Mercaptopurine, thioguanine, azathioprine</p> Signup and view all the answers

    The slow acetylator phenotype is an autosomal __________ trait.

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

    Match the medication to its primary use:

    <p>Isoniazid = Antibiotic Hydralazine = Antihypertensive Procainamide = Antiarrhythmic Dapsone = Antibiotic</p> Signup and view all the answers

    What is the activity score (AS) for a person with no functional alleles?

    <p>0</p> Signup and view all the answers

    CYP2C9 is one of the least important drug metabolizing enzymes.

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

    What is the phenotype classification for someone with an AS score of 1.0?

    <p>Extensive metabolizer</p> Signup and view all the answers

    CYP2D6 genotyping can assist in _____ therapy.

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

    What is the primary focus of pharmacogenetics?

    <p>The study of how individual gene variations affect drug response</p> Signup and view all the answers

    Match the CYP2D6 activity scores with their corresponding genotypes.

    <p>AS = 0 = No functional alleles AS = 0.5 = One reduced function + one non-functional alleles AS = 1.0-2.0 = One normal function + one reduced function alleles AS &gt; 2 = More than two copies of normal function alleles</p> Signup and view all the answers

    Which of the following drugs is metabolized by CYP2C9?

    <p>S-warfarin</p> Signup and view all the answers

    Pharmacogenomics is concerned with the genetic variations of individual patients.

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

    What enzyme deficiency is associated with favism and certain drug responses?

    <p>glucose-6-phosphate dehydrogenase (G6PD)</p> Signup and view all the answers

    Individuals classified as poor metabolizers of CYP2C9 have two normal gene copies.

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

    Males are more susceptible to G6PD deficiency because they inherit the condition in an _____ manner.

    <p>X-linked recessive</p> Signup and view all the answers

    What classification is given to a person with one normal and one reduced function allele?

    <p>Intermediate metabolizer</p> Signup and view all the answers

    The CYP2C9 polymorphisms significantly affect _____ dosing.

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

    Match the following terms to their correct definitions:

    <p>Pharmacogenetics = Focus on individual gene variations affecting drug response Pharmacogenomics = Study of how genes in a genome relate to the population's drug responses G6PD = Enzyme deficiency that causes acute hemolytic anemia Favism = Condition caused by eating uncooked fava beans resulting in hemolysis</p> Signup and view all the answers

    How many alleles contribute to an AS score of 0.5?

    <p>One reduced and one non-functional allele</p> Signup and view all the answers

    Which of the following is a common result of G6PD deficiency?

    <p>Acute hemolytic anemia</p> Signup and view all the answers

    Females with one mutated G6PD gene are typically affected by the deficiency.

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

    In what chromosome is the G6PD gene located?

    <p>X chromosome</p> Signup and view all the answers

    The goal of pharmacogenetics is to understand genetic ________ to individualize therapy.

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

    What is a consequence of CYP2C9 deficiency when receiving warfarin?

    <p>Higher incidence of gastrointestinal bleeding</p> Signup and view all the answers

    All individuals have the same CYP2C19 polymorphisms regardless of their ethnic background.

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

    What type of metabolisers are identified when individuals have two non-functional alleles for CYP2C19?

    <p>Poor metaboliser</p> Signup and view all the answers

    Individuals with CYP2C19 polymorphisms may be classified as _____, _____, _____, and _____ metabolizers.

    <p>poor, intermediate, extensive, rapid, ultrarapid</p> Signup and view all the answers

    Match the phenotype to their corresponding genotype for CYP2C19:

    <p>Poor metaboliser = Two non-functional alleles Intermediate metaboliser = One normal + one non-functional allele Extensive metaboliser = Two normal alleles Rapid metaboliser = One normal + one increased activity allele</p> Signup and view all the answers

    Which of the following describe the effect of CYP2C19 on clopidogrel?

    <p>Activates the drug for efficacy</p> Signup and view all the answers

    Ultrarapid metabolizers have the potential for sub-therapeutic levels when taking drugs processed by CYP2C19.

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

    What might be necessary for an intermediate metaboliser of CYP2C19?

    <p>Sub-therapeutic dose may be needed</p> Signup and view all the answers

    CYP2C19 polymorphisms can affect drug metabolism, with poor metabolizers potentially experiencing _____ toxicity.

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

    Which group of individuals has a rarely encountered metaboliser phenotype?

    <p>One non-functional + one increased function</p> Signup and view all the answers

    Study Notes

    Pharmacogenetics Overview

    • Pharmacogenetics is the study of how individual genes affect drug handling and response.
    • Pharmacogenetics investigates the cause of aberrant drug responses.
    • This approach is more applicable to individual patients than to a general population.
    • The goal is to personalize therapy and limit variability by understanding genetic polymorphisms.

    Basics of Genetics

    • Humans inherit traits from parents encoded in DNA.
    • DNA is double-stranded, storing and transferring genetic information.
    • Nucleotides (purines and pyrimidines) are DNA building blocks.
    • DNA's four nucleobases are thymine (T), guanine (G), adenine (A), and cytosine (C).
    • RNA uses uracil (U) instead of thymine.
    • A-T and G-C base pair in DNA.
    • A-U and G-C base pair in RNA

    Chromosomes and Genes

    • DNA is organized into chromosomes.
    • Humans have 46 chromosomes (23 pairs).
    • Genes are regions within chromosomes carrying instructions for traits.
    • Each person has two copies of every gene (one from each parent).
    • Genes influencing traits come in different forms called alleles.

    RNA, Enzymes, and Receptors

    • RNA reads gene codes to produce enzymes and receptors.
    • Some alleles alter enzyme/receptor function and production.
    • Variations from the "normal" pattern (polymorphism) result in varied responses to medications in sub-populations.
    • Mutations are the cause of gene polymorphisms.
    • Substitution, deletion, insertion, and duplication are types of DNA mutations.
    • Single nucleotide polymorphisms (SNPs) are the most common mutation type.

    Genotype and Phenotype

    • Genotype refers to the underlying genetic makeup determining traits.
    • Phenotype refers to the physical expression of traits influenced by genes and the environment.

    History and Examples

    • Acute haemolytic anaemia (favism) linked to fava beans and antimalarial drugs like primaquine.
    • G6PD deficiency is an X-linked recessive genetic trait commonly affecting males.
    • Polymorphism is variability in the sequence of the genes between individuals of the same species.
    • Variations in CYP2D6 affect drug metabolism (70-80% of drug metabolism).
    • Codeine is converted into morphine, its analgesic properties affected by poor or rapid metabolisers.
    • CYP2C9 is involved in ~15-20% of CYP450 metabolised drugs.
    • CYP2C19 polymorphisms significantly affect drug metabolism. Drugs like clopidogrel and amitriptyline interact differently with CYP2C19.
    • Drug metabolism involves CYP3A4 in ~50% of cases and has wide ethnic variability.
    • UDP-glucuronyltransferase (UGT) plays a role in ~40-70% of drug metabolism.
    • Other drug metabolizing enzymes and their associated drug interactions
    • Polymorphisms in certain drug transporter genes (ABCC2, ABCG2) may impact drug effectiveness and side effects.
    • Certain OATP polymorphisms and glucose-lowering capacity of repaglinide (antidiabetic drug)
    • Several other genetic variations related to drug metabolism and responses.

    Testing and Applications

    • Pharmacogenetic testing can personalize drug therapy and minimize adverse events.
    • Clinical guidelines and drug labels increasingly incorporate pharmacogenetic information to guide dosing decisions.

    Summary

    • Genetic polymorphisms can significantly affect how the body handles and responds to drugs.
    • Understanding ethnic variations in these polymorphisms is critical for making appropriate therapy choices.
    • Pharmacogenetic testing is becoming critical for tailored dosing protocols.

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    Description

    This quiz provides an overview of pharmacogenetics and basic genetics concepts. It covers how genes affect drug responses and the fundamental structure of DNA, including nucleotides and chromosomes. Understanding these concepts is crucial for personalizing therapy based on genetic information.

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