Podcast
Questions and Answers
A genetic variant results in a synonymous change in a coding region. What is the most likely effect of this variant on the protein's function?
A genetic variant results in a synonymous change in a coding region. What is the most likely effect of this variant on the protein's function?
- The protein will be overexpressed, leading to a gain-of-function.
- The protein's function is likely unchanged. (correct)
- The protein will be truncated, leading to a loss-of-function.
- The protein will have a significantly altered amino acid sequence, impairing its function.
A patient is identified as a CYP2C19 *1/*17 genotype. How would you classify this patient's predicted metabolizer phenotype?
A patient is identified as a CYP2C19 *1/*17 genotype. How would you classify this patient's predicted metabolizer phenotype?
- Rapid or Ultra-rapid Metabolizer (correct)
- Intermediate Metabolizer
- Poor Metabolizer
- Normal Metabolizer
Which of the following is the correct way to describe the chromosomal location of a specific gene?
Which of the following is the correct way to describe the chromosomal location of a specific gene?
- Band, region, chromosome number, arm
- Arm, chromosome number, band, region
- Chromosome number, arm, region, band (correct)
- Region, chromosome number, arm, band
How does alternative splicing contribute to protein diversity?
How does alternative splicing contribute to protein diversity?
An individual has a diplotype consisting of two different haplotypes. How would you describe this individual?
An individual has a diplotype consisting of two different haplotypes. How would you describe this individual?
What is the primary purpose of using tag SNPs in genome-wide association studies?
What is the primary purpose of using tag SNPs in genome-wide association studies?
A patient is prescribed a drug that is metabolized by CYP2D6. Genetic testing reveals they are a CYP2D6 poor metabolizer (PM). What is the most likely consequence?
A patient is prescribed a drug that is metabolized by CYP2D6. Genetic testing reveals they are a CYP2D6 poor metabolizer (PM). What is the most likely consequence?
How do variants in the SLCO1B1 gene typically affect statin dosing?
How do variants in the SLCO1B1 gene typically affect statin dosing?
Which of the following best describes the difference between genotype and phenotype?
Which of the following best describes the difference between genotype and phenotype?
A patient is undergoing warfarin therapy. Which gene is MOST important to consider when determining the appropriate warfarin dosage?
A patient is undergoing warfarin therapy. Which gene is MOST important to consider when determining the appropriate warfarin dosage?
Flashcards
Chromosomal Nomenclature
Chromosomal Nomenclature
The system for naming chromosomal locations using letters (arm) and numbers (region, band).
Alternative Splicing
Alternative Splicing
A process where different combinations of exons are joined together to produce multiple mRNA transcripts from a single gene.
Genotype and Phenotype
Genotype and Phenotype
The genetic makeup of an organism (e.g., specific alleles) and its observable characteristics resulting from the interaction of its genotype with the environment.
Single Nucleotide Polymorphisms (SNPs)
Single Nucleotide Polymorphisms (SNPs)
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Diplotypes and Haplotypes
Diplotypes and Haplotypes
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Tag SNPs
Tag SNPs
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SNP Classes (missense, nonsense, synonymous)
SNP Classes (missense, nonsense, synonymous)
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CYP2D6 alleles
CYP2D6 alleles
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CYP2C19 alleles
CYP2C19 alleles
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Phenoconversion
Phenoconversion
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Study Notes
Week 1/2
- Chromosomal nomenclature for human genes needs translating into representative letter (arm) and number (region, band).
- Alternative splicing needs defining.
- Genotype and phenotype needs defining and recognizing in given descriptive data.
- Single nucleotide polymorphisms (frequency in population) needs defining.
- Distinguish between diplotypes and haplotypes.
- Tag SNPs identified and recognize their use in genome testing.
- SNP classes (missense, nonsense, synonymous) needs recalling and their functional effect identified on proteins
Week 3 and Week 4
- CYP2D6 alleles and functional activity are important.
- CYP2C19 alleles and their activity and metabolizer phenotypes.
- CYP2C9 alleles and metabolizer phenotypes.
- Interpret a given genotype or phenotype definition/classification.
- Deduce functional activity and consequences of hypothetical variants in given transporters based on their cellular locations.
- NAT 2 alleles – Variants and associated outcomes with drug and or disease.
- COMT variants – Colloquial phenotype definitions based on the Val/Met alleles.
- UGT1A1 allele variants and what makes the UGT gene family unique.
- TPMT variants and associated population frequencies.
- SLCO1B1 variants and effects of variants on statin dosing and associated side effects.
- Interpret a given genotype or phenotype definition/classification.
Week 5
- Identify Major PK and PD Genes Implicated in Psychiatry and Other Disease states covered in class especially in PK and PD.
- Need Warfarin dosing and associated genes and variants and ApoE gene variants and drug response with ACE gene testing and associated diseases/outcomes.
- Recognize phenoconversion for CYP2D6 substrates when given concurrently.
- Deduce favorable or risk haplotype combinations for given SNPs and any associated outcomes.
Week 6
- Understand the various patient perspectives for testing.
- Regulatory oversight for testing, and who is responsible for what.
- Consider different testing scenarios for decision making capacity.
- CMS test reimbursement/coverage for particular genes like CYP2C19 and CYP2D6.
- Consider conditions under which you would consider little utility to testing when using an algorithmic approach.
- Recognize different types of testing methods and conditions under which they should not be utilized.
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