Podcast
Questions and Answers
Which part of a chromosome is designated by the letter 'q'?
Which part of a chromosome is designated by the letter 'q'?
- Telomere
- Centromere
- Short arm
- Long arm (correct)
Alternative splicing results in what outcome?
Alternative splicing results in what outcome?
- The production of multiple proteins from a single gene (correct)
- A single protein being produced per gene
- Changes to the chromosome number
- DNA replication errors
What does 'genotype' refer to?
What does 'genotype' refer to?
- The protein structure of an enzyme
- The effect of environment on traits
- The physical characteristics of an organism
- The genetic makeup of an organism (correct)
Which of the following best describes a phenotype?
Which of the following best describes a phenotype?
At what minimum percentage must single nucleotide polymorphisms (SNPs) occur in a population to be considered common?
At what minimum percentage must single nucleotide polymorphisms (SNPs) occur in a population to be considered common?
What is the key difference between 'haplotypes' and 'diplotypes'?
What is the key difference between 'haplotypes' and 'diplotypes'?
Why are tag SNPs useful?
Why are tag SNPs useful?
A missense mutation results in which of the following?
A missense mutation results in which of the following?
What is the consequence of a nonsense mutation?
What is the consequence of a nonsense mutation?
What is the effect of synonymous SNPs?
What is the effect of synonymous SNPs?
An individual with the CYP2D6 *2xN genotype is associated with which metabolic activity?
An individual with the CYP2D6 *2xN genotype is associated with which metabolic activity?
How would a CYP2C19 *17/*17 genotype classify a patient's metabolizer status?
How would a CYP2C19 *17/*17 genotype classify a patient's metabolizer status?
Which CYP enzyme is most relevant for warfarin metabolism?
Which CYP enzyme is most relevant for warfarin metabolism?
A patient with the CYP2C9 *3/*3 genotype is likely to exhibit what change in warfarin metabolism?
A patient with the CYP2C9 *3/*3 genotype is likely to exhibit what change in warfarin metabolism?
Which type of reaction is the NAT2 enzyme primarily involved in?
Which type of reaction is the NAT2 enzyme primarily involved in?
Flashcards
Chromosome Arm 'q'
Chromosome Arm 'q'
The long arm of a chromosome is designated by the letter 'q'.
Alternative Splicing
Alternative Splicing
Alternative splicing can produce multiple different proteins from a single gene.
Genotype Definition
Genotype Definition
Genotype is the genetic makeup of an organism.
Definition of Phenotype
Definition of Phenotype
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SNP Occurrence
SNP Occurrence
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Haplotype vs Diplotype
Haplotype vs Diplotype
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Tag SNPs
Tag SNPs
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Missense Mutation
Missense Mutation
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Nonsense Mutation
Nonsense Mutation
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Synonymous SNPs
Synonymous SNPs
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CYP2C9 *3/*3 and Warfarin
CYP2C9 *3/*3 and Warfarin
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NAT2 Enzyme
NAT2 Enzyme
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SLCO1B1 Role
SLCO1B1 Role
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Genetic testing utility
Genetic testing utility
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PGx Label Regulation
PGx Label Regulation
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Study Notes
- The long arm of a chromosome is designated by the letter "q".
- Alternative splicing results in the production of multiple proteins from a single gene.
- A genotype refers to the genetic makeup of an organism.
- A phenotype is best described as the observable characteristics of an individual.
- Single nucleotide polymorphisms (SNPs) occur in at least 1% of the population.
- Haplotypes refer to a single allele, while diplotypes include both alleles in a pair.
- Tag SNPs are useful because they represent an entire haplotype block.
- A missense mutation results in a change in one amino acid.
- A nonsense mutation results in a premature stop codon.
- Synonymous SNPs do not change the amino acid sequence.
- CYP2D6 *2xN is associated with ultrarapid metabolism.
- A CYP2C19 *17/*17 genotype would classify a patient as an ultrarapid metabolizer.
- CYP2C9 enzyme is most relevant for warfarin metabolism.
- A patient with CYP2C9 *3/*3 genotype is likely to have decreased warfarin metabolism.
- Acetylation reactions are the primary function of the NAT2 enzyme.
- The Met/Met genotype of COMT is associated with decreased dopamine degradation.
- SLCO1B1 polymorphisms affect statin transport and toxicity.
- Thiopurine drug metabolism is relevant for TPMT enzyme activity.
- A patient who is a poor metabolizer of CYP2D6 substrates should receive a lower dose of a CYP2D6-metabolized drug.
- UGT1A1 enzyme variants impact the metabolism of irinotecan.
- Warfarin dosing is significantly affected by polymorphisms in CYP2C9 and VKORC1.
- The ApoE gene is most commonly associated with cholesterol metabolism and Alzheimer's risk.
- A patient with the ApoE4 allele may have decreased clearance of beta-amyloid.
- The ACE gene is involved in blood pressure regulation.
- Phenoconversion refers to a mismatch between genetic and functional enzyme activity due to drug interactions.
- A drug that inhibits CYP2D6 can cause a patient with an extensive metabolizer genotype to functionally resemble a poor metabolizer.
- If a patient is taking fluoxetine (a CYP2D6 inhibitor), their ability to metabolize codeine into morphine will be decreased.
- In psychiatric pharmacogenomics, a poor metabolizer of CYP2C19 is likely to have decreased clearance of certain SSRIs.
- CYP2C19 *17/*17 genotype patients taking omeprazole may require a lower dose due to rapid metabolism.
- Clopidogrel requires activation by CYP2C19.
- Genetic testing is most useful in cases where the test results directly inform drug dosing decisions.
- The FDA oversees genetic testing regulation in the United States.
- CYP2D6 is reimbursed by CMS for pharmacogenomic testing.
- Testing a gene with no known drug interactions is an example of low utility for genetic testing.
- A pharmacogenomic test would be least useful in assessing an individual's dietary preferences.
- Most drug effects are not influenced by genetics alone, which is the primary reason that genetic testing is not always recommended before prescribing a drug.
- Targeted SNP genotyping is the fastest testing method for clinical genetic testing.
- The FDA regulates a drug label that includes pharmacogenomic testing requirements.
- An individual with two copies of a loss-of-function allele for a drug-metabolizing enzyme is most likely a poor metabolizer.
- Pharmacogenomic testing may be particularly beneficial in a patient who has a strong family history of psychiatric medication failure.
- SLCO1B1 testing is most relevant for atorvastatin.
- If a patient has a poor metabolizer phenotype for CYP2D6, codeine may not be effective.
- Genetic testing for drug metabolism is most likely to be clinically actionable when the drug has a narrow therapeutic index.
- A patient with a CYP2C19 *2/*2 genotype is most likely to be a poor metabolizer of clopidogrel.
- Genetic testing reimbursement is most likely when the test is included in treatment guidelines.
- Clinical guidelines and drug metabolism impact is the most important factor in determining whether genetic testing is appropriate.
- BRCA1 is not directly involved in drug metabolism.
- Personalized medication selection and dosing is a key benefit of pharmacogenomic testing.
- Genetic testing is not always required before prescribing medications which is a false statement about genetic testing.
- Ibuprofen would not require genetic testing before prescribing.
- Regions of the genome with high linkage disequilibrium (LD) are mapped using Tag SNPs.
- A newly discovered SNP that changes a serine to a stop codon (S168X) is classified as a Nonsense SNP.
- The most commonly occurring variant in the human genome is a Single nucleotide polymorphism (SNP).
- Hydrogen bonding in DNA occurs between A and T, and C and G nucleotide pairs.
- The star codon ATG codes for Methionine amino acid.
- A single gene is able to produce multiple protein products through Alternative splicing.
- The original nucleotide in the 1479G>A SNP is G - Forward strand.
- A diplotype refers to a set of linked genetic variants inherited from both parents.
- Haplotype is what a tag SNP represents a group of SNPs known as.
- The term describing an individual's genotype at a particular locus and its predicted functions: Genotype at a particular locus & Predicted function of inherited alleles.
- The enzyme that metabolizes over 25% of all prescription drugs and multiple polymorphic alleles is CYP2D6.
- Loss of function alleles are what CYP2C19 mutations (2, 3) that cause a splicing defect or truncated protein are classified as.
- the CYP2C19 alleles that have the greatest importance when considering the effects on enzyme activity are *2, *3, *17.
- Intermediate metabolizer is the predictd CYP2D6 phenotype who has CYP2D6 (2/17)?
- An increased dose of medication is what an ultrarapid metabolizer needs for a prodrugs that requires activation by metabolism
- Sinlge nucleotide polymorphism (SNP) is the most common form of genetic variability.
- The gene that has been identified with multiple copies leading to altered metabolism is CYP2D6.
- Cmax and AU relate to drug exposure and absorption in terms of pharmacokinetic parameters.
- The gene that codes for an efflux trnasporter that affects drug absorption in the GI tract is ABCB1.
- A poor metabolizer is an individual who woould likley have the highest exposure to an avtive drug.
- An ultrarapid metabolizer is an individaual that likley has hte hgihest exposure to an active metabolite from a prodrugs.
- The changes in a drug-metabolizing gene influence the pharmacokinetic parameter values of CL and appraten t1/2.
- *28/*28 (UGT1A1) is the genotype associated with hyperbilirubinemia in patients on atazanavir.
- *5 is an allele in CYP2D6 that does not show any reduced enzyme activity.
- A desreased function in an ABC transporter in hepatocytes would decrease substrate drug excretion.
- Patients with NAT2*5/5 genotype should avoid Isoniazid.
- Reduce standard dose by 90% and administer twice weekly is the recommended does adjustment for Mercaptopurine in TPMT*3C homozygpte patients.
- Increased side effects experienced SLCO1B1*5/5 patients on simvastatin.
- CYP2D6 poor metabolizers are classified as aprtient with a 10-hydroxynortriptyline to nortriptyline ratio of 0.005.
- TMPT Poor Metabolizers get represented by Compound heterozygotes of *2 and *3C
- The gene that exibits ultrarapid metabolizer (UM) phenoltype due to gene duplication os CYP2D6.
- UGT1A1 is responsible for hyperbilirubinemia in Gilbert syndrome.
- Increase side effect profiles is not a central objective in Psychiatric pharmacogenomics.
- SLC6A4 (Serotonin transport protein, SERT)is a most widely studies pharmacodynamic (PD) gene in psychiatry.
- Clinical Pharmacology is the FDA's pharmacogenomic biomarkers for psychiatric drugs are.
- Met/Met is the COMT genotype that gets classified as the "Worrier” phenotype.
- C allele is the risk allele for mortality who got given metoprolol-treated patients, and have CC genotypes for ADRB1 rs1801253.
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