Quizzes Flashcards
SNP1 and SNP2 has a linkage disequilibrium (LD) R2 value of 0.9. Which of the following is likely to be true:
A. SNP1 and SNP2 have a high probability to be inherited together
B. SNP1 and SNP2 have a low probability to be inherited together
C. SNP1 and SNP2 are inherited independently of each other
D. SNP1 and SNP2 are always inherited together
A. SNP1 and SNP2 have a high probability to be inherited together
A missense mutation leads to ______
A. Either gain-of-function or loss-of-function depending on the exact amino acid change
B. Loss-of-function
C. Protein-truncation
D. Gain of Function
A. Either gain-of-function or loss-of-function depending on the exact amino acid change
From what position does Exon 5 start?
A. 165,309,352
B. 165,309,443
C. 165, 308,500
D. 165,308,666
E. 165,308,794
D. 165,308,666
What is the third amino acid of the protein encoded by this gene?
A. Pro
B. Gln
C. Met
D. His
E. Asn
B. Gln
The protein coding sequence (open reading frame) start from somewhere at:
A. Exon 1
B. Exon 2
C. Intron 1-2
D. Intron 2-3
E. Exon 3
B. Exon 2
How many base pairs have been identified in the whole human genome?
A. ~300 million
B. ~30 million
C. ~3 million
D. ~3 billion
D. ~3 billion
What is the value of Q1?
A. 160
B. 280
C. 320
D. 140
C. 320
What is the value of Q2?
A. 60%
B. 90%
C. 70%
D. 80%
D. 80%
What is the value of Q3?
A. 100
B. 300
C. 400
D. 200
C. 400
In your patient’s genome, the red and bold T is deleted, please identify the third amino acid in the corresponding protein sequence:
A. Met
B. His
C. Ile
D. Leu
C. Ile
A PGx test should be submitted to ___
A. Any lab performing PGx research
B. Any lab offering SNP genotyping
C. Any lab that is CLIA certified
D. A CLIA lab offering PGx testing
D. A CLIA lab offering PGx testing
T/F: Red blood cells can be used to obtain DNA for PGx testing
False
Which statement about whole exome/genome sequencing is incorrect?
A. Can detect almost all kinds of polymorphisms
B. Relatively low cost per SNP
C. 1-3x sequencing coverage is commonly used to identify human SNPs
D. Generates a large amount data
C. 1-3x sequencing coverage is commonly used to identify human SNPs
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (~40% of the population) and homozygous patients (~15% of the population) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
Is the c.G681A SNP located in an exon?
True/False
True
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
In a population of 300 patients, how many people are likely to carry a G/G genotype at this SNP?
A. 165
B. 45
C. 135
D. 90
C. 135
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
Patients carrying which of following genotypes of the SNP are likely to have the lowest CYP2C19 enzymatic activity?
A. G/A
B. A/A
C. All genotypes will be the same
D. G/G
B. A/A
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
The minor allele frequency of this SNP is about__
A. 15%
B. 20%
C. 35%
D. 45%
C. 35%
Which method cannot be used to test both known and unknown alleles?
A. DNA chip
B. Sanger sequencing
C. Next generation sequencing
D. all of them
A. DNA chip
One patient comes to your pharmacy to get clopidogrel and told you that his doctor ordered a genetic testing from him, which shows his CYP2C19 as *5 and *8. Using PHARMGKB, what advice you will give to the patient?
A. Reduce the dose as the patient is an intermediate metabolizer
B. Recommend the switch to alternative therapy because the patient is a poor metabolizer.
C. Keep taking the same dose the doctor prescribed
D. Increase the dose because this patient is an ultrarapid metabolizer
B. Recommend the switch to alternative therapy because the patient is a poor metabolizer.
Which of the following Sanger sequence image shows a heterozygous allele?
A. Image A
B. Image B
C. Image C
D. None of them
B. Image B
Which statement about antibodies are not correct?
A. Antibodies can block the function of its target protein
B. Antibodies can be engineered to delivery drug
C. Antibodies can be used to treat cancers
D. Antibodies are produced by T cells
D. Antibodies are produced by T cells
To do a good experiment and generate robust data, which one is the least important?
A. Positive control
B. Sample size
C. Negative control
D. Absolute value of the data
D. Absolute value of the data
You ordered whole exome sequencing for your patient with early onset seizures and found a mutation in SCN8A, which encodes the sodium channel Nav1.6. Functional assays show the mutation causes a gain of function phenotype to make the sodium channel Nav1.6 overactive.
Which of the following therapies is the most likely to be beneficial?
A. Adeno associated virus to deliver a healthy copy of SCN8A
B. mRNA vaccination to activate T cells to treat the patient
C. Antisense oligonucleotide
D. Implantation of stem cell derived neuron into the brain of the patient
C. Antisense oligonucleotide
The prevalence of a rare allele (18) was low. Below are the statistics for the 2-year cumulative event rates of this allele: bleeding [1/*18 vs. 1/1: 2 vs. 2.3%; odds ratio (OR), 1.23; 95% confidence interval (CI), 0.16-9.45], stent thrombosis (2 vs. 1.1%; OR, 3.98; 95% CI, 2.4-6.6); composite of any death (5.4 vs. 7.1%; OR, 1.37; 95% CI, 0.32-5.73). Which of the following events is significantly associated with the 1/18 genotype?
A. Bleeding
B. Stent thrombosis
C. Composite of any death
D. All of above
E. None of above
B. Stent thrombosis
Which of the following is not needed for making mRNA-based COVID-19 vaccines that are currently in use?
A. Chemically modified mRNA
B. Coronavirus particles
C. Sequence information of coronavirus spike protein
D. Lipid coating
B. Coronavirus particles
T/F: In PGx research, p value <0.05 is commonly used to show statistical significance for a large number of SNPs identified in whole exome sequencing?
False
Which of the following LDL-C concentration is more likely to be the test results of a patient with PCSK9 gain-of-function mutation?
A. 105 mg/dL
B. 282 mg/dL
C. 95 mg/dL
D. 46 mg/dL
B. 282 mg/dL
You ordered a sequencing of CYP2C9 for your patient. The results show that there is no known mutant allele identified. However, a novel mutation (heterozygous) in CYP2C9 exon 3 was identified.
Do you think if this patient has normal CYP2C9 enzyme function?
A. The test result is wrong
B. Yes
C. I do not know
D. No
C. I do not know
A patient carries homozygous nonsense mutation in an important gene responsible for a key liver function. Which type of medication is most likely to help this patient?
A. Gene therapy
B. Small molecule drug
C. Antisense oligonucleotides
D. Monoclonal antibody
A. Gene therapy
Repatha and Praluent are what type of drug?
A. Small molecule drug
B. Monoclonal antibody drug
C. Small interfering RNA drug
D. Mimetic peptide drug
B. Monoclonal antibody drug
