Unit 3 Flashcards
Which of the following statements about genetic testing methods is TRUE:
A
SNP-chip involves generating sequences of billions of short DNA fragments that are fed into software to reconstruct the sequence of the entire human genome.
B
The major advantage of gel electrophoresis is that it can be used to detect single SNPs for a very low cost.
C
The major advantage of whole-genome sequencing is that it can identify every possible DNA variation in the genome, even variations we don’t already know about.
D
The reason that SNP-chip is the most widely used method is because it is cheap and because it tests for every possible DNA variation in the genome, as long as the variation is a SNP.
C
The major advantage of whole-genome sequencing is that it can identify every possible DNA variation in the genome, even variations we don’t already know about.
Is this statement TRUE or FALSE?
Results of genetic tests can be used for pre-symptomatic medical interventions
TRUE
Which of the following statements about genetic variations is NOT true?
A
Genetic variations can be insertions, deletions, or single-nucleotide changes
B
Genetic variations make up less than 0.5% of the human genome
C
Genetic variations always change the coding sequence of a protein, leading to different phenotypes in different people.
D
Some genetic variations can be “silent”- they have no effect on observable traits
C
Genetic variations always change the coding sequence of a protein, leading to different phenotypes in different people.
If a person develops skin cnacer because frequent exposure to sunlight induced a mutation in their skin tissue, the person:
A
Will pass on an increased chance of cancer to all children conceived ater they acquired the mutation
B
Will not pass on an increased chance of cancer to their children because the induced genetic change is a somatic mutation
C
Will pass an increased chance of cancer to 50% of children because only 50% of gametes will receive the mutated chromosome
D
It is impossible to tell without knowing if the mutation is dominant or recessive
B
Will not pass on an increased chance of cancer to their children because the induced genetic change is a somatic mutation
Which of the following statements is true about traits or disorders that are inherited in an autosomal dominant pattern?
A
A child with the trait will have at least one parent with the trait
B
Individuals that don’t display the trait are called genetic carriers
C
Two copies of a non-functional gene are required for an individual to display the trait
D
Males are affected much more than females
A
A child with the trait will have at least one parent with the trait
Which of the following statements about polymerase chain reaction (PCR) is true?
A
PCR involves applying DNA to a gel matrix to determine the size
B
PCR can be used alone to detect insertions and deletions
C
PCR determines that exact order of DNA bases in a small segment of DNA that is about 1000 base pairs long
D
PCR is used to make billions of copies of a single DNA molecule which can be then analyzed using other methods
D
PCR is used to make billions of copies of a single DNA molecule which can be then analyzed using other methods
In PCR, what is the fuction of the heat step?
A
It separates DNA fragments according to size, so that only the small pieces of interest are copied.
B
It causes the primers to bind to the DNA
C
It cute the DNA into fragments small enough to be copied
D
It releases DNA from the collected blood or cheek cells
E
It separates the two strands of the DNA double helix
E
It separates the two strands of the DNA double helix
SNPs in any one of 18 genes are responsible for >95% of hypertrophic cardiomyopathy cases. The most cost-effective technology to test for 95% of known causes of hypertrophic cardiomyopathyis:
A
Sanger DNA sequencing because it can determine the exact sequence of nucleotides in those 18 genes
B
SNP-Chip because each spot can be used to test for the presence of a different mutation at an affordable cost
C
PCR because DNA containing numerous mutations can be amplified simutaneously
D
PCR becuase different variations will produce different size PCR products when performing gel electrophoresis.
B
SNP-Chip because each spot can be used to test for the presence of a different mutation at an affordable cost
Is the following statement TRUE or FLASE?
It is illegal to decline someone coverage for life insurance; or health insurance based on the genetic information non-discrimination act of 2008
FALSE
Tay Sachs disease is a recessive trait. If two people that are genetic carriers of Tay Sachs have childrem, What is the likelihood that a child will be born with Tay Sachs?
A
100%
B
75%
C
67%
D
50%
E
33%
F
25%
F
25%
Tay Sachs disease is a common disorder that is inherited in an autosomal recessive pattern. A man and a woman who did not have Tay Sachs disease have one healthy child and one child with Tay Sachs disease. What is the chance that their healthy child will be a carrier of the recessive Tay Sachs allele?
A
100%
B
67%
C
50%
D
33%
E
25%
F
0%
B
67%
Please use this description to answer the following five questions:
According to SNPedia.com, CYP2C9 is a gene on chromosome 10 that encodes a protein named “cytochrome p450 2C9”. This protein functions in the liver to degrade certain molecules incuding some types of medications. For example, patients with genetic variations in the CYP2C9 gene can have adverse reactions to the medication warfarin, which is a blood thinner given to patients with high risk for stroke or heart attack. An adverse (i.e. dangerous) reaction to warfarin can occur when the genetic variations result in lower amounts of the CYP2C9 protein being made or if the enzyme activity is lowered due to changes in the protein’s amino acid sequence.
The SNP rs1799853 is in the CYP2C9 coding sequence and can be C or an A. Individuals with the rs1799853(C;C) genotype do not have a drug interaction with warfarin, but for people with the rs1799853(C;T) or the rs1799853(T;T) genotypes, the drug warfarin accumulates to high levels in the blood because warfarin is not metabolized, or broken down, fast enough in the liver. These high levels of warfarin in the blood can cause internal bleeding that is sometimes fatal. In addition to the rs1799853 single nucleotide polymorphism, there are many other genetic variations that can occur in the CYP2C9 gene including insertions and deletions. A genetic test for the CYP2D6 genotype can inform a doctor that they should prescribe a lower dose of warfarin for patients with high risk genotypes
Which of the following genetic variations in the CYP2C9 gene is NOT likely to cause an adverse reaction to warfarin.
A
A SNP in gene coding sequence that changes a UAU codon to UAC. Both codons code for the amino acid tyrosine.
B
A deletion that includes the promoter
C
A single base insertion in the gene coding sequence
D
None of the above. All of these genetic variations are likely to alter the “cytochrome p450 3C9 protein”
A
A SNP in gene coding sequence that changes a UAU codon to UAC. Both codons code for the amino acid tyrosine.
Based on the information above, what pattern of inheritance does the CYP2C9 rs1799853(T) allele exhibit?
A
Autosomal Dominant
B
X-linked recessive
C
Autosomal recessive
D
there is not enough information to answer this question
A
Autosomal Dominant
Which of the following genetic tests could NOT be used to test for ALL known genetic variations in the CYP2C9 gene?
A
SNP-Chip
B
Whole genome sequencing
C
Sanger/conventionsal DNA sequencing
D
A and B
E
A and C
F
B and C
A
SNP-Chip
On a SNP-chip test, the spot testing for the rs1799853(C) allele of CYP2C9 contains the DNA sequence CCTGCC. The spot testing for the rs1799853(T) allele contains the DNA sequence TCTGCC. Which of the following fluorescently labeled DNA molecules from a patient would hybridize, or stick, to the spot matching the rs1799853(T) allele?
A
AGACGG
B
TCTGCC
C
CCTGCC
D
GGACGG
A
AGACGG
