EXAM 1 Flashcards
SNP1 and SNP2 has a linkage disequilibrium (LD) R2 value of 0.9. Which of the following is likely to be true: (2 pts)
A.SNP1 and SNP2 are inherited independently of each other
B.SNP1 and SNP2 have a high probability to be inherited together
C.SNP1 and SNP2 have a low probability to be inherited together
D.SNP1 and SNP2 are always inherited together
B
R2=0 no LD
R2=1 complete LD/Perfect LD
R2 greater than or equal to 0.8 Strong LD
lecture 4 basic concepts III - slide 18
What is the value of Q2? (2 pts)
T/T 140 | 70%
T/C 40 | 20%
C/C 20 | 10%
TOTAL 200 | 100%
ALLELE
T Q1 | Q2%
C ___ | ___
TOTAL Q3 |___
A. 70%
B. 90%
C. 80%
D. 60%
80%
What is the value of Q1? (2 pts)
T/T 140 | 70%
T/C 40 | 20%
C/C 20 | 10%
TOTAL 200 | 100%
ALLELE
T Q1 | Q2%
C ___ | ___
TOTAL Q3 |___
A. 140
B. 280
C. 160
D. 320
320
What is the value of Q3? (2 pts)
T/T 140 | 70%
T/C 40 | 20%
C/C 20 | 10%
TOTAL 200 | 100%
ALLELE
T Q1 | Q2%
C ___ | ___
TOTAL Q3 |___
A. 400
B. 200
C. 100
D. 300
400
A missense mutation leads to ___ (2 pts)
A.gain-of-function
B.protein-truncation
C.loss-of-function
D.either gain-of-function or loss-of-function depending on the exact amino acid change
D
Read the following guideline and answer the following 4 questions:
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__ (2 pts)
A. 15%
B. 20%
C. 35%
D. 45%
35%
Read the following guideline and answer the following 4 questions:
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? (2 pts).
A. G/G
B. G/A
C. A/A
D. ALL GENOTYPES WILL BE THE SAME
A/A
Read the following guideline and answer the following 4 questions:
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?
A. True
B. False
True
ead the following guideline and answer the following 4 questions:
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? (2pt)
A. 45
B. 135
C. 165
D. 90
135
Which statement about whole exome/genome sequencing is incorrect? (2 pts)
A.Generates a large amount data
B.Relatively low cost per SNP
C.Can detect almost all kinds of polymorphisms
D.1-3x sequencing coverage is commonly used to identify human SNPs
D
Red blood cells can be used to obtain DNA for PGx testing
true/false
false
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? (2 pts)
A.Increase the dose because this patient is an ultrarapid metabolizer
B.Reduce the dose as the patient is an intermediate metabolizer
C.Keep taking the same dose the doctor prescribed
D.Recommend the switch to alternative therapy because the patient is a poor metabolizer.
D
A PGx test should be submitted to ___ (2 pt)
A.Any lab that is CLIA certified
B.A CLIA lab offering PGx testing
C.Any lab performing PGx research
D.Any lab offering SNP genotyping
B
Which method cannot be used to test both known and unknown alleles? (2 pts)
A.DNA chip
B.Sanger sequencing
C.Next generation sequencing
D.all of them
A
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? (2 pts)
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
