(MB) ASCP Practice Exam Questions
and Answers Solved Correctly
Which of the following is not a component of a nucleotide?
Phosphate group
Anti-codon
Ribose sugar
Nitrogen base ✔✔Anti-codon
According to Chargaff's
...
(MB) ASCP Practice Exam Questions
and Answers Solved Correctly
Which of the following is not a component of a nucleotide?
Phosphate group
Anti-codon
Ribose sugar
Nitrogen base ✔✔Anti-codon
According to Chargaff's rule of base pairing, adenine pairs with: ✔✔Thymine
What genes would be screened in a breast cancer panel? ✔✔HER2, ERBB2, BRCA1
Next Generation Sequencing uses: ✔✔Short sequence reads
Purines and pyrimidines differ from each other in that: ✔✔Purines have two rings; pyrimidines
have one ring
The purines are:
Cytosine and uracil
Adenine and thymine
Thymine and cytosine
Adenine and guanine ✔✔Adenine and guanine
What is the rate of mutation per round of DNA replication?
1 in 1,000 base pairs
1 in 10,000 base pairs
1 in 1,000,000 base pairs
1 in 1,000,000,000 base pairs ✔✔1 in 1,000,000,000 base pairs
The rate of DNA migration through an agarose gel during electrophoresis does not depend on
which of the following factors?
Net charge of the molecule
Size of the molecule
Shape of the molecule
Nucleotide sequence of the molecule ✔✔Nucleotide sequence of the molecule
What are the phases in a qPCR Amplification Plot?
Initiation, exponential, plateau
Baseline, exponential, plateau
Baseline, threshold, exponential, plateau
Baseline, initiation, threshold, exponential, plateau ✔✔Initiation, exponential, plateau
Find the palindrome in this restriction enzyme site: 5'-CTGCAG-3'?
5'-GAC
3'-GAC
3'-CTG
5'-GTC ✔✔3'-GAC
A patient with impaired judgment, personality changes, signs of abnormal body movements and
depression comes to the physician's office for a follow-up visit. The physician suspects a singlegene disorder may be the cause of those clinical manifestations. A blood specimen was then sent
to your clinical laboratory for mutation screening in the Huntington gene. Testing with standard
PCR indicates that patient has Huntington Disease, HD. Which of the following would be
consistent with this diagnosis?
25 CAG repeats in the Huntington gene
85 CAG repeats in the Huntington gene
25 CGA repeats in the Huntington gene
85 CGA repeats in the Huntington gene ✔✔85 CAG repeats in the Huntington gene
Which two HPV types are responsible for most cases of cervical cancer?
16 and 18
31 and 59
16 and 58
44 and 59 ✔✔16 and 18
Replication forks, known as origins of DNA replication, are created by this enzyme:
Ligase
Taq Polymerase
Primase
Helicase ✔✔Helicase
Mutation in what gene is associated with Fragile X syndrome? ✔✔FMR1
Mantle cell lymphoma (MCL) is caused by what translocation? ✔✔t(11;14)
This polymerase is involved in "initiation of DNA replication and has primase activity": ✔✔Pol α
Its discovery shed light on why there is simultaneous, though not continuous, synthesis of DNA
on both leading and lagging strands of DNA:
Klenow fragment of DNA polymerase
Okazaki fragments
Sanger fragments
RNA fragments ✔✔Okazaki fragments
What gene is measured following treatment with imatinib (Gleevec)?
FLT3
BCR/Abl
Jak2
MAPK ✔✔BCR/Abl
What is the rate of mammalian DNA replication?
500 nucleotides per second
100 nucleotides per second
50 nucleotides per second
10 nucleotides per second ✔✔50 nucleotides per second
This polymerase is involved in "replicates mitochondrial DNA": ✔✔Pol γ
A patient with impaired judgment, personality changes, signs of abnormal body movements and
depression comes to the physician's office for a follow-up visit. The physician suspects a singlegene disorder may be the cause of those clinical manifestations. A blood specimen was then sent
to your clinical laboratory for mutation screening in the Huntingtin gene. Which of these methods
would best accomplish this task?
Methylation-specific PCR
Standard PCR
PFGE
RAPD PCR ✔✔Standard PCR
Which of the following storage options is optimal for storing isolated DNA for a period greater
than seven years?
22-25ºC
2-8ºC
-20ºC
-70ºC ✔✔-70ºC
Consider a hypothetical mutation involving gene X. Let's say you amplify a specific exon, say
exon 11, of that gene then you cut it with restriction enzyme W. In a person without the mutation,
cutting the gene with restriction enzyme W generates two fragments of sizes, 100 bp and 250 bp.
Suppose a C>T mutation in gene X deletes a restriction site, yielding a fragment of 350 bp. You
would expect a heterozygous person for gene X to have these fragments on a restriction gel:
+/+ = 350 bp; 250 bp; 100 bp;
m/+ = Only the 350 bp
m/+ = 350 bp; 250 bp; 100 bp
m/m = 350 bp; 250 bp ✔✔m/+ = 350 bp; 250 bp; 100 bp
Which of the following will more likely lower stringency conditions in the washing step of a
hybridization experiment?
Increase the concentration of salt in the wash solution buffer
Increase the temperature from, say 68°C to 75°C
Use a probe with a higher density of GC base pairs as compared to one with a lower GC base pair
density
Remove formamide from the wash solution buffer ✔✔Increase the concentration of salt in the
wash solution buffer
What enzyme is involved in LCR? ✔✔DNA Ligase
Next Generation Sequencing set-up require:
Library preparation and extensive bioinformatics analysis
BAC clones
Use of translation factors
Hybridization ✔✔Library preparation and extensive bioinformatics analysis
Which of the subunits of RNA polymerase holoenzyme is responsible for promoter recognition?
Beta subunit
Sigma subunit
Gamma subunit
Delta subunit ✔✔Sigma subunit
While at the doctor's office with your father, you overheard his physician tell another physician
that test results came in, confirming the presence of the Factor V Leiden mutation, a mutation
associated with deep venous thrombosis. Which of the following is the mutation your father has:
A1691G
G1619A
1691G>A
C282Y ✔✔1691G>A
Consider the probe sequence, CTACCGTAATATTCGACCGT, to be used in a hybridization
procedure. What is the melting temperature, Tm, of the sequence?
60°C
58°C
64°C
62°C ✔✔58°C
This polymerase acts on DNA and produces Ribosomal RNA:
RNA Pol I
DNA Pol I
RNA Pol II
DNA Pol II ✔✔RNA Pol I
Sickle cell disease is an autosomal genetic disease due to a point mutation in the beta-globin gene,
where glutamic acid is substituted for valine at the sixth codon of the gene, resulting in a faulty
hemoglobin S (Hb S). Sickle cell disease is one of many genetic diseases where a single gene
controls the expression of many phenotypic traits. The phenomenon where a single gene controls
the expression of many phenotypic traits is best referred to as: ✔✔Pleiotrophy
What assay amplifies the target using a combination of a three-enzyme system?
Branched DNA
TMA
PCR
NASBA
LCR ✔✔NASBA
In what part of a qPCR Amplification Plot do you take your measurement? ✔✔Exponential phase
All of the following are liquid tumors, except:
Mantle cell lymphoma
Ewing sarcoma
Burkitt's lymphoma
Acute promyelocytic leukemia ✔✔Ewing sarcoma
A technologist uses the spectrophotometer to quantify the amount of DNA extracted from a blood
specimen diluted 1:30. The absorbance reading at 260 nm was found to be 2.545. If the absorbance
at 280 nm gave a reading of 1.406, and if the the DNA extract was re-suspended in 0.800 mL of
EDTA solution, the DNA yield is: ✔✔(2.545 * 50ng/mcl)= 127.25
(127.25ng/mcl * 0.30) = 38.175ng/mcl
38.175ng/mcl ( 0.800mL1000) =
3054 micrograms
According to the wobble hypothesis, a U in the 5' position of the anit-codon can pair with:
U or C
A or G
A, C or G
Only A ✔✔A or G
This polymerase acts on DNA and produces Messenger RNA: ✔✔RNA Pol II
What assay amplifies the probe signal and the probe RNA concentration increases if the target to
be detected is present?
Branched DNA
TMA
PCR
NASBA
LCR
Qβ replicase ✔✔Qβ replicase
This restriction enzyme "digests and adds a methyl group from Adenine":
Type I
Type II
Type III
DNase I ✔✔Type III
What increases the half-life of mRNA?
5' Methyl Cap
3' Methyl Cap
Poly-A tail
5' Methionine Cap ✔✔5' Methyl Cap
A parent has an autosomal dominant disorder. What percent chance does this parent have to pass
down this affected gene to his/her child?
0%
25%
50%
75%
100% ✔✔50%
The phrase "central dogma of molecular biology" refers to the flow of genetic data in this manner:
DNA --> RNA --> Proteins
DNA -->Proteins --> Genes
RNA --> DNA --> Proteins
RNA --> Proteins --> DNA ✔✔DNA --> RNA --> Proteins
What drug is NOT metabolized by CYP2D6?
Codeine
Omeprazole
Warfarin
Escitalopram ✔✔Warfarin
You have sequenced a gene and observe the following:
Reference: atgctggcacgacaggtttcccgactgg
Sequenced: atgCctggcacgacaggtttcccgactgg
The mutation observed is a:
Frame-shift mutation
Insertion
Silent mutation
Non-conservative mutation ✔✔Frame-shift mutation
A parent has an autosomal recessive disorder. What percent chance does this parent have to pass
down this affected gene to his/her child?
0%
25%
50%
75%
100% ✔✔100%
Which DNA polymerase is responsible for copying DNA by reading existing strand, building new
complementary strand and always adds to 3' end, but can't start a new strand on its own (ORI
sites)?
DNA Polymerase III
DNA Polymerase I
Gyrase
None of the choices listed ✔✔DNA Polymerase III
How many log10 reductions in HIV viral load is considered to be successful upon treatment?
0.5log10
1log10
2log10
3log10 ✔✔0.5log10
Which of the following is not a characteristic of a tRNA molecule?
D arm
Beta arm
T arm
Anti-codon arm ✔✔Beta arm
This translocation creates a fusion protein between the Abl1 gene on one chromosome and the
BCR gene on the other chromosome, resulting in chronic myelogenous leukemia (CML):
✔✔t(9;22)
What stain binds to minor groove of DNA Duplex? ✔✔SYBR1
Which of the following best characterizes a vector?
helps carry DNA into cell ie plasmids, virus
allows formation of double-stranded molecules
initiates replication during PCR
decodes mRNA ✔✔helps carry DNA into cell ie plasmids, virus
Between which phosphate groups is the linkage between the GTP molecule and RNA chain in the
5' cap?
Beta-beta
Alpha-gamma
Gamma-beta
Alpha-beta ✔✔Alpha-beta
This restriction enzyme "digests and removes a methyl group from Adenine":
Type I
Type II
Type III
DNase I ✔✔Type I
Primer dimers are due to what complimentary issue?
3' to 3' complementarity of primer pairs
3' to 5' complementarity of primer pairs
5' to 5' complementarity of primer pairs
5' to 3' complementarity of primer pairs ✔✔3' to 3' complementarity of primer pairs
The hydroxyl group in a deoxyribonucleotide is expected to be found on which position of the
sugar?
C1'
C2'
C3'
C4' ✔✔C3'
Nucleic acid hybridization methods can be affected by a host of factors. Select all the factors that
that can influence this process.
G:C ratio of bases
pH of the hybridization reaction
Hybridization temperature
All of the above ✔✔All of the above
A technologist uses the spectrophotometer to quantify the amount of DNA extracted from a blood
specimen diluted 1:30. The absorbance reading at 260 nm was found to be 2.545. The
concentration of DNA in this extract is:
76.35 micrograms/mL
3817.5 micrograms/mL
381.75 micrograms/mL
3054.0 micrograms/mL ✔✔3817.5 micrograms/mL
Mutation in UGT1A1 affects metabolism of what drug? ✔✔Ironotecan
Testing for HOXB13, BRCA1 and BCRA2 is usually done in patients with: ✔✔Prostate cancer
RT-PCR can be used to quantify messenger RNA (mRNA) among other uses. All of the following
concerning RT-PCR are true, EXCEPT:
RT-PCR is useful in detecting RNA-viruses, such as HIV
RT-PCR uses alkaline phosphatase to reverse amplify the signal
RT-PCR produces cDNA using RNA templates ✔✔RT-PCR uses alkaline phosphatase to reverse
amplify the signal
Southern blot can be used for all of the following purposes, except:
Paternity testing
Chromosomal staining
Gene discovery and mapping
Mutation analysis and identification ✔✔Chromosomal staining
If a woman is infected with the HPV virus, which of the following parameters increases her risk
of developing cervical cancer?
A vegetarian diet
Never having been pregnant
Obesity
Smoking ✔✔Smoking
Which of the following is not a common hydrogen bond acceptor?
A carbonyl
Primary amine
Hydroxyl
Tertiary amine ✔✔Primary amine
T-Cell Gene Rearrangement is seen in what malignancy?
Sézary syndrome
Burkitt's lymphoma
Non-Hodgkin Lymphoma
Polycythemia vera ✔✔Non-Hodgkin Lymphoma
The t(11;22) translocation is responsible for: ✔✔Ewing sarcoma
In CML, what fusion protein is created?
EWS-FLI1
EWS-PAR2
BCR-Abl1
c-myc-IGH ✔✔BCR-Abl1
As a technologist working in a small clinical laboratory, a nasal swab specimen, suspected to be
colonized by a variety of upper respiratory viruses, came to your laboratory. You are tasked with
determining whether the specimen is colonized with rhinovirus, coronavirus, and influenza. Which
PCR method would best be suitable for this task?
Nested PCR
Real-time PCR
NASBA
Multiplex PCR ✔✔Multiplex PCR
All of the following methods of amplification are considered target amplification, except:
Quantitative PCR
NASBA
Strand Displacement Amplification
Reverse Transcriptase PCR ✔✔NASBA
Which of the following reagents will successfully decontaminate a bench top that has been exposed
to DNA amplification products?
70% Ethanol
5% Bleach
100% Isopropanol
10% Methanol ✔✔5% Bleach
All of the following are components of nucleic acids, EXCEPT:
Phosphate group
Sugar (ribose or deoxyribose)
Nitrogenous base (A, G, C, T)
Formamide ✔✔Formamide
The amelogenin locus, found on the sex chromosomes, is used in gender identification.
Amplification at this locus reveals 2 peaks of sizes 212 and 218 base pairs. If this amplification
were part of a gender identification procedure, what would be the gender of the individual?
Male
Female
Hermaphrodite
Can't be determined from the given information ✔✔Male
What assay amplifies the target using DNA polymerase?
Branched DNA
TMA
PCR
NASBA
LCR ✔✔PCR
During DNA replication, the 3' -OH of the growing DNA chain attacks which phosphate of an
incoming nucleotide?
Alpha
Beta
Gamma
Delta ✔✔Beta
What gene is measured following treatment with Warfarin?
FLT3
VKORC1
MAPK
P53 ✔✔VKORC1
The process of making proteins is termed:
Replication
Translation
Transcription
Sequencing ✔✔Translation
How many polymorphisms can be found in the human genome?
Approximately 10 million
Approximately 100 thousand
Approximately 1 billion
Approximately 1 million ✔✔Approximately 10 million
This highly polymorphic loci region is crucial in assessing immune system compatibility:
VNTRs
HLA
SINES
SNPs ✔✔HLA
Given the anti-sense strand of DNA: 5'-AATTGCCGACATAGAT-3' which is the appropriate
sense strand?
5'-ATCTATGTCGGCAATT-3'
5'-TTAACGGCTGTATCTA-3'
5'-AATTGCCGACATAGAT-3'
5'-GAGCACGCTATCTTAT-3' ✔✔5'-ATCTATGTCGGCAATT-3'
Mutations in the CFTR gene is associated with what disease?
Fragile X
Cystic Fibrosis
Sickle-cell anemia
Mantle Cell Lymphoma ✔✔Cystic Fibrosis
The mother of a 3 year old boy took him to the doctor's office for concerns of an underlying genetic
condition. A karyotype order was sent to the Molecular Diagnostic lab. Karyotype results show
47, XY,+21. Based on these results, the boy has:
Patau Syndrome
Down Syndrome
Edward Syndrome
Cri du chat Syndrome ✔✔Down Syndrome
In real-time PCR, what is amplified?
The target
The signal
The probe
All of the above ✔✔The target
When sequencing HLA-DR what is targeted?
Exon 1 of the α subunit
Exon 2 of the α subunit
Exon 1 of the β subunit
Exon 2 of the β subunit ✔✔Exon 2 of the β subunit
What is the rate of DNA translation?
80 nucleotides per second
200 nucleotides per second
60 nucleotides per second
40 nucleotides per second ✔✔60 nucleotides per second
This PCR method works by generating a signal at the annealing step (i.e. when the probe binds its
target) of the PCR reaction:
FRET probes
Scorpion primers
Molecular beacons
Taqman ✔✔Molecular beacons
What is the most common mutation in Hemochromatosis?
1691G>A
F508del
R506Q
C282Y ✔✔C282Y
Mutation in this gene (Xp21) is associated with Duchenne Muscular Dystrophy:
Dystrophin
P53
Musculin
C-myc ✔✔Dystrophin
What is the sequence recognized by poly (A) polymerase?
TATAAA
CAA
CCCGAA
AAUAAA ✔✔AAUAAA
Splicing is the process that does which of the following?
Remove exons and preserve introns
Remove introns and preserve exons
Remove mutated regions of primary transcript RNA (tRNA)?
Add a poly-A tail to the end of a primary RNA transcript? ✔✔Remove introns and preserve exons
Which of the following statements are characteristics of the melt curve analysis? (hint: more than
one answer)
-At the melting point, the probe separates from the target strand and fluorescence rapidly decreases.
-The melting temperature of double stranded DNA depends on its base composition and length.
-All PCR products for a specific primer pair should have the same melting temperature.
-When hybridization probes are utilized, the temperature is incrementally decreased while
fluorescence is monitored. ✔✔-At the melting point, the probe separates from the target strand and
fluorescence rapidly decreases.
-The melting temperature of double stranded DNA depends on its base composition and length.
-All PCR products for a specific primer pair should have the same melting temperature.
Acute promyelocytic leukemia (APL) is responsible for what translocation? ✔✔t(15;17)
What genes would be screened in a colorectal panel?
KRAS, BRAF, PIK3CA
HER2, ERBB2, BRCA1
KRAS, EGFR, ALK
MSH2, PMS2, EPCAM ✔✔KRAS, BRAF, PIK3CA
What responds poorly to Ribavarin/Interferon treatment?
HCV type 1
HCV type 2
HCV type 3
HCV type 4
HCV type 1 & 4
HCV type 2 & 3 ✔✔HCV type 1 & 4
If two parents are heterozygous for an autosomal recessive disease, then their offspring will most
likely follow this gene frequency pattern:
-25% homozygous dominant, 50% heterozygous, and 25% homozygous recessive
-50% homozygous dominant, and 50% homozygous recessive
-100% homozygous for the dominant phenotype
-100% homozygous for the recessive phenotype ✔✔25% homozygous dominant, 50%
heterozygous, and 25% homozygous recessive
This polymerase acts on DNA and produces Transfer RNA:
RNA Pol II
DNA Pol II
RNA Pol III
DNA Pol III ✔✔RNA Pol III
What assay is a signal amplification test and uses Alkaline Phosphatase?
Branched DNA
TMA
PCR
NASBA
LCR ✔✔Branched DNA
What genes would be screened in a lung cancer panel?
KRAS, BRAF, PIK3CA
HER2, ERBB2, BRCA1
KRAS, EGFR, ALK
MSH2, PMS2, EPCAM ✔✔KRAS, EGFR, ALK
Which of the following molecular methodologies would be the best for detecting a trinucleotide
repeat disorder such as Huntington's disease?
Heteroduplex analysis
Variable number tandem repeat analysis
Single strand conformation polymorphism analysis
Reverse-Transcriptase PCR ✔✔Variable number tandem repeat analysis
Which method would best be used to detect the Leiden mutation?
PCR-RFLP
bDNA amplification
PFGE
Ribotyping ✔✔PCR-RFLP
Which of the following is not a step in the Southern blot procedure?
DNA digest with restriction enzymes
Gel resolution of fragments
Fragments denaturation
Probe digest ✔✔Probe digest
Bone marrow transplantation is a great method used to treat several malignant and benign cancers,
particularly leukemias. Before transplantation (or engraftment analysis), several polymorphic loci
are screened in both the recipient and donor cells. The main goal of this screening is to:
-find at least one or more informative loci between both the donor and recipient
-find exactly ten informative loci between both the donor and recipient
-find all the non-informative loci between both the donor and recipient
-find the blood type/group of both the donor and recipient ✔✔find at least one or more informative
loci between both the donor and recipient
A DNA specimen was sent to your Molecular Diagnostics Laboratory for DNA sequencing, in
order to determine whether patient A has a particular mutation in gene X. The gene sequence is
known. However, the gene mutation itself is not known. Therefore, DNA sequencing cannot be
performed on this DNA specimen. (True or False)
True
False ✔✔True
After an amplification procedure followed by gel electrophoresis, you took a photo of your gel.
You notice consistent bands in all your gel lanes. However, you also see what appears to be a faint
but noticeable band in your reagent blank lane. What is your best explanation for the reagent blank
band?
-Taq polymerase concentration was too low in this PCR reaction
-There was obvious contamination in this PCR reaction
-The primers concentration was too high in this PCR reaction
-The dNTPs concentration was too high in this PCR reaction ✔✔There was obvious contamination
in this PCR reaction
In mantle cell lymphoma (MCL), this is the fusion gene created:
EWS-FLI1
CCND1-IGH
BCR-IGH
c-myc-EWS ✔✔CCND1-IGH
This enzyme is known for "unzipping" genes!
Alkaline Phosphatase
RNA polymerase
Apyrase
Helicase ✔✔Helicase
Given the anti-sense strand of DNA: 5'-AATTGCCGACATAGAT-3' which is the appropriate
sense strand?
5'-ATCTATGTCGGCAATT-3'
5'-TTAACGGCTGTATCTA-3'
5'-AATTGCCGACATAGAT-3'
5'-GAGCACGCTATCTTAT-3' ✔✔5'-ATCTATGTCGGCAATT-3'
What is the optimum storage condition for any specimen (whole blood, bone marrow, tissue etc.)
awaiting RNA extraction?
-Remove contaminating RBCs then immediately freeze at -20°C
-Prepare a lyophilized cell pellet and store at room temperature
-Refrigerate at 4°C indefinitely ✔✔Remove contaminating RBCs then immediately freeze at -
20°C
Which of the following is not a PCR step?
Denaturation
Elongation
Annealing
Termination ✔✔Termination
Which PCR method has the highest specificity?
qPCR
Touchdown PCR
Nested PCR
Two-step PCR ✔✔Nested PCR
All of the following enzymes are part of the DNA replication machinery, EXCEPT:
Ligase
DNA polymerase
Luciferase
Helicase ✔✔Luciferase
What is the name of the molecule that is added to the 5' end of eukaryotic RNA transcripts?
ATP
SnRNP
GTP
Phosphate ✔✔GTP
What is multiplex PCR?
-A PCR technique to amplify multiple targets
-A PCR technique where a preamplified amplicon is amplified to increase sensitivity
-A PCR technique where a preamplified amplicon is amplified to increase sensitivity
A PCR technique that combines reverse transcription and amplification in one reaction
-A PCR technique where various samples can be amplified in one reaction ✔✔A PCR technique
to amplify multiple targets
Codons that code for the same amino acid are called:
Synonyms
Similar
Degenerates
Complements ✔✔Synonyms
When comparing 2 samples in a qPCR Amplification plot, a log difference can be seen as
approximately:
ΔCt = 1
ΔCt = 3.3
ΔCt = 10
ΔCt = 6.6 ✔✔ΔCt = 3.3
Deletion in the paternal chromosome 15: del(15)(q11q13) results in Prader-willi syndrome.
However, deletion in the same region in the maternal chromosome results in a completely different
condition known as Angelman syndrome. This phenomenon is an example of:
Mosaicism
Loss of heterozygosity
Hemizygosity
Genomic imprinting ✔✔Genomic imprinting
What translocation results in synovial sarcoma, a muscle and fibrous tissue cancer? ✔✔t(18;X)
Testing for Aldehyde Dehydrogenase deficiency is important in patients with:
Alcohol dependence
Diabetis
Lactic acidosis
Obesity ✔✔Alcohol dependence
You could use all of the following methods to test for the the t(9;22) translocation, except:
FISH
Southern blot
Reverse-transcriptase PCR
Ribotyping ✔✔Ribotyping
The nitrogenous base in a nucleotide is expected to be found on which position of the sugar?
C1'
C2'
C3'
C5' ✔✔C1'
Which of the following is not a mutation found in the HFE gene of hemochromatosis?
C282Y
H63D
5382insC
S65C ✔✔5382insC
Clinical laboratories must have clearly written protocols in place describing handling of specimens
for clinical testing. Many factors can affect testing performance before the actual testing is
conducted. Such factors or variables are collectively known as pre-analytical. From the list below,
select all the pre-analytical variables that can have a negative impact on clinical testing (Hint: more
than one answer choice!)
-Storage conditions
-Patient identifiers
-Anticoagulant in collection tubes
-Transport procedures
-Introduction of Heparin in all blood tubes to maintain specimen integrity for testing
-Thermo cycling parameters
-DNA isolation method used
-Testing analysis software used ✔✔-Storage conditions
-Patient identifiers
-Anticoagulant in collection tubes
-Transport procedures
What translocation is associated with Burkitt's lymphoma? ✔✔t(8;14)
What does the term consanguinity refer to?
-The lines on a pedigree used to show relationships between siblings
-The first affected family member coming to medical attention
-The line of descent on a pedigree used to show relationships between parents and children
-Individuals that share a common ancestor or are considered "of the same blood"
-Neither of the listed choices ✔✔-Individuals that share a common ancestor or are considered "of
the same blood"
There are many types of RNA molecules, each of which has a specific function within the cell.
Which type of RNA molecule is responsible for transporting amino acids during protein synthesis?
Transfer RNA (tRNA)
Ribosomal RNA (rRNA)
Messenger RNA (mRNA)
Small Nuclear RNA (snRNA)
MicroRNA (miRNA) ✔✔Transfer RNA (tRNA)
What is the best way to store RNA for longer than a month?
-In nuclease free (DEPC-treated) water, at -20°C or -80°C
-In TrizolⓇ, at -20°C or -80°C
-In Ethanol, at -20°C or -80°C
-In DMSO, at -20°C or -80°C ✔✔In Ethanol, at -20°C or -80°C
How many hydrogen bonds are formed between one C:G base pair?
1
2
3
4 ✔✔3
What is the enzyme responsible for stitching together Okazaki fragments?
Helicase
Single-stranded DNA binding protein
Primase
Ligase ✔✔Ligase
How is warfarin dosage affected in patients with VKORC1 deficiency?
Patients receive a higher warfarin dose
Patients receive a lower warfarin dose
Warfarin dosage is unaffected ✔✔Patients receive a lower warfarin dose
When this enzyme finds nicks or gaps in the sugar-phosphate backbone of DNA, it closes them!
Thermosequenase
Helicase
Primase
Ligase ✔✔Ligase
In which of the following methods is the probe digested by the polymerase (Taq) during primer
extension?
Taqman
FRET probes
Molecular beacons
Scorpion probes ✔✔Taqman
Which of the following is not a source of DNA damage?
Chemical damage
Splicing
Attack by water
Radiation damage ✔✔Splicing
All of the following are trinucleotide repeat disorders, EXCEPT:
Spinocerebellar Ataxia Type 8
Huntington Disease
Asperger Disease
Fragile X Disease ✔✔Asperger Disease
This polymerase is involved in "short-patch base excision repair":
Pol α
Pol β
Pol γ
Pol δ ✔✔Pol β
You have sequenced a gene and observe the following:
Reference: atgctggcacgacaggtttcccgactgg
Sequenced: atgCTGctggcacgacaggtttcccgactgg
The mutation observed is a:
Frame-shift mutation
Insertion
Silent mutation
Non-conservative mutation ✔✔Insertion
The 5' capping process creates what type of linkage?
5'-3'
3'-5'
5'-5'
3'-3' ✔✔5'-5'
A reverse dot blot is best performed by:
-Immobilizing multiple unlabeled probes onto the membrane and then allowing one labeled sample
to hybridize to the unlabeled probes
-Immobilizing one labeled probe onto the membrane and allowing multiple labeled samples to
hybridize to the labeled probe
-Immobilizing multiple unlabeled probes onto the membrane and allowing multiple unlabeled
samples to hybridize to the unlabeled probes
-Allowing a single labeled sample to hybridize to multiple labeled single stranded probes onto the
membrane ✔✔-Immobilizing multiple unlabeled probes onto the membrane and then allowing one
labeled sample to hybridize to the unlabeled probes
What signals the end of transcription?
Stop codon
Terminator
The end of the DNA chain
RNA polymerase runs out ✔✔Terminator
Which of the following is not a characteristic of eukaryotic DNA transcription?
Multiple RNA polymerases
TATA-binding protein
Strict promoter sequences
Transcription factors ✔✔Strict promoter sequences
What enzyme is crucial in the making RNA from DNA?
DNA Polymerase
RNA Polymerase
Helicase
Primase ✔✔RNA Polymerase
What is the predominant form of DNA?
A Form
B Form
Z Form
G Form ✔✔B Form
Why is it critical to maintain workflow from "clean" to "dirty" while working in a molecular lab?
-To ensure that all equipment is being utilized to its full potential
-To prevent amplified products from entering the post-PCR detection area of the laboratory
-To avoid contamination of specimens with amplified product which create false positive results
-To allow "dirty"(or infected) patient samples to become decontaminated before running an assay
✔✔-To avoid contamination of specimens with amplified product which create false positive
results
In a retrovirus the RNA acts as:
Genome and mRNA
mRNA
Genome
rRNA ✔✔Genome and mRNA
Imagine you are working in specimen processing for the molecular laboratory and you receive a
patient's specimen collected in a lavender top vacutainer tube containing EDTA. The test that is
ordered requires that the specimen be collected in a yellow top ACD vacutainer tube. What is the
BEST action to take in this instance?
-Reject the specimen, inform the supervisor and request a new specimen drawn in ACD
-Process the sample according to laboratory protocol because EDTA does not interfere with
molecular testing methods
-Document the tube additive change, process the sample, run the test, and hold the results until a
supervisor or laboratory director signs off
-Follow the prescribed laboratory protocol for accepting and rejecting specimens
-Both B & D are correct
-Both C & D are correct ✔✔-Follow the prescribed laboratory protocol for accepting and rejecting
specimens
Which of the following is not involved in the splicing reaction?
5' splice site
Hairpin loops
Branch A point
3' splice site ✔✔Hairpin loops
What assay amplifies the target using reverse transcriptase?
Branched DNA
TMA
PCR
NASBA
LCR ✔✔TMA
To what does the AcrAB gene product create resistance to?
Tetracycline
Penicillin
Vancomycin
Erythromycin ✔✔Tetracycline
The phosphate group in a nucleotide is expected to be found on which position of the sugar?
C1'
C2'
C4'
C5' ✔✔C5'
Which of the following is not a probe-labeling method?
Labeling by random priming
Labeling by nick translation
End-labeling (using a terminal transferase enzyme)
Labeling by hybrid capture ✔✔Labeling by hybrid capture
This enzyme is known for "unzipping" genes!
Alkaline Phosphatase
RNA polymerase
Apyrase
Helicase ✔✔Helicase
What volume of DNA (in microliters) is required to prepare a restriction digest that requires 10
µgs of DNA when the stock DNA is 5 µg/µl?
0.5 µl
1 µl
2 µl
5 µl ✔✔2 µl
Which one of the following complementary pairings is incorrect?
A=T
G=C
U=T
A=U ✔✔U=T
What is the advantage of Next Generation Sequencing (NGS) over traditional Sanger Sequencing?
-Ability to sequence multiple mutation variants of a single gene at a single time
-Preparation of a library
-Easy setup
-Use of a barcode reader ✔✔Ability to sequence multiple mutation variants of a single gene at a
single time
What links codons and anti-codons together during DNA translation?
DNA ligase
Single-stranded binding protein
Complementary base pairing
GTP ✔✔Complementary base pairing
Both parents are carriers of an autosomal recessive disorder. What percent chance do these parents
combined have to pass down this affected gene to their child?
0%
25%
50%
75%
100% ✔✔75%
A cerebrospinal fluid (CSF) sample for hematologic evaluation should be tested within how many
hours of collection?
1 hour
2 hours
3 hours
4 hours ✔✔1 hour
Blood drawn into what type of tube is compatible for Genetic testing?
K2EDTA tube
Sodium citrate tube
Sodium Heparin tube
Boric acid, sodium formate tube ✔✔K2EDTA tube
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