Chem TB Flashcards Unit 5
1) What hormones causes the hypothalamus to trigger the surge of
Estrogen
luteinizing hormone (LH) from the anterior pituitary just before
ovulation?
2) What would the laboratory results be in a male patient exhibiting Decreased testosterone, decreased
characteristic symptoms of hypogonadotropic hypogonadism?
FSH
3) During the luteal phase, which hormone, when decreased in the
Estradiol
absence of conception, releases its inhibition on pituitary gland
synthesis and release of FSH?
4) What hormones shuts off synthesis and release of LH from the
Testosterone
male pituitary gland?
5) Laboratory assessment of what hormones is used to evaluate
Progesterone
ovulation?
6) What statements concerning amenorrhea is (are) correct?
D
a. One cause of primary amenorrhea is Turner syndrome, in which there is no
estrogen production by the ovaries.
b. Hirsutism is a typical side effect of amenorrhea caused by androgen excess.
c. Primary amenorrhea is defined as the absence of menstrual bleeding in
women
who have never menstruated.
d. All of the above are correct.
7) A typical characteristic in a woman with polycystic ovary disease increased serum LH concentration.
(PCOS) includes:
8) In nonpregnant women, progesterone is synthesized and secreted corpus luteum.
by the:
9) Typical findings in a woman in menopause include:
decreased estrogen and inhibin.
10) What statements regarding FSH/LH is incorrect?
Progesterone produced by the
corpus luteum causes LH levels to
increase.
11) Dehydroepiandrosterone sulfate (DHEA-S):
is an important screening test used
to evaluate women with hirsutism
and virilization.
12) Early activation of the hypothalamic-pituitary-gonadal axis in a
GnRH-dependent precocious
young child will lead to:
puberty.
13) In measurement of testosterone in blood:
morning specimens are preferred
14) The peptide hormone responsible for the discharge of the
gonadotropins from the anterior pituitary gland, which
causes Kallmann syndrome when deficient, is:
15)
Inhibin:
16) A 14-year-old male comes to his physician with infantile
genitalia and the lack of development of any secondary sex
characteristics. The patient is short in stature. Upon
discussion of family history, it was discovered that several
male relatives had similar defects in testicular development.
Based on this information, laboratory results would
indicate:
because of the diurnal release of
testosterone.
gonadotropin-releasing hormone.
inhibits release of FSH from the
male pituitary gland.
decreased testosterone and
elevated FSH/LH.
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Chem TB Flashcards Unit 5
17) A 30-year-old female visits her physician with a complaint
of excess facial and body hair, weight gain, and
oligomenorrhea. She has read online that her symptoms
indicate possible Cushing syndrome. Laboratory values
indicate plasma cortisol levels within the reference
intervals, elevated estrogen and LH, and decreased FSH.
What other disorder might this patient have?
18)
The benign growth of glandular breast tissue in men is
referred to as:
19) Regarding the phases of the menstrual cycle, the suppression
of luteinizing hormone synthesis by progesterone occurs
during what phases?
20) What statements concerning maternal endocrine changes
during the first 12 weeks (first trimester) of pregnancy is
correct?
21) The placental peptide hormone that has exceptional
homology with growth hormone and that has aldosteronestimulating effects is:
22) In a preterm infant, the lack of pulmonary surfactant in
immature lungs will produce what symptoms?
23) The presence of bilirubin in amniotic fluid is an indicator of:
24) When the gradual replacement of hemoglobin F by
hemoglobin A does not occur normally, what is the result?
25) Fetal lung maturity:
26) The primary function of amniotic fluid is to:
27)
The trophoblast cells that surround the developing
blastocyst:
28) The cells that form surfactant in fetal lungs are the:
29) A pregnant woman, who has been previously diagnosed
with preeclampsia, develops edema, headaches, and nausea
over several weeks. She complains about a band of pain
around the upper part of her abdomen. Her eyes and skin
are yellow. Her obstetrician orders a full blood workup,
including coagulation studies, CBC, liver enzyme profile,
and electrolyte panel. Her serum appears hemolyzed. If this
woman was diagnosed with preeclampsia originally, what
might these laboratory results reveal?
30) In the second trimester of pregnancy, maternal serum
inhibin A concentration is:
31) The maternal screening tests that are considered to be part
of the “quadruple test” for estimating Down syndrome risk
include:
Polycystic ovarian syndrome
(PCOS)
gynecomastia.
Luteal phase
TSH remains unchanged
chorionic gonadotropin.
Respiratory distress
fetal erythroblastosis.
Increased oxygen affinity to
hemoglobin F
can be accelerated by
administration of corticosteroids
before birth.
provide protection, constant
temperature, and moisture for the
fetus.
invade the endometrium and
form the placenta.
type II pneumocytes.
Elevated liver enzymes,
abnormal coagulation results,
low platelet count, elevated
sodium
high in the presence of Down
syndrome and low in trisomy 18.
alpha-fetoprotein, unconjugated
estriol, chorionic gonadotropin,
and inhibin A.
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Chem TB Flashcards Unit 5
32) A pregnant woman was tested for fetal fibronectin (fFN)
using vaginal secretions as the specimen. The fFN result
indicated a concentration of 55 ng/mL. What information
does this analyte’s value provide?
33) Early in gestation, amniotic fluid has a composition similar
to:
34) A pregnant woman in her second trimester visits her
obstetrician with elevated blood pressure. A urine sample
reveals normal glucose, elevated protein, and a small
number of red and white blood cells. The woman is
recommended for bed rest for the remaining term of her
pregnancy. This condition is known as:
35) During embryonic development of the brain and spinal cord,
failure of the neural tube to close with resultant fetal protein
leaking into the amniotic fluid is referred to as:
36) Concerning alpha-fetoprotein (AFP), what statements is
correct?
37) A hormone that is monitored to assess conditions associated
with intrauterine (vs. ectopic) fetal growth is:
38) In the second trimester, maternal age along with a screening
serum analysis of alpha-fetoprotein, inhibin A,
unconjugated estriol, chorionic gonadotropin, and what are
assessed as the “integrated test” testing panel for Down
syndrome risk estimate?
39) Greenish amniotic fluid indicates the presence of:
40) Newborn screening is considered a public health activity that
aims to identify and treat possible deadly conditions early in
an infant’s life. What characteristics must be met before a
disease can be part of a screening program?
41) What is the basic setup of a tandem mass spectrometry
analyzer?
It indicates that the risk of
preterm delivery is two to four
times greater than normal.
extracellular fluid.
preeclampsia.
anencephaly.
An appropriate time to measure
AFP in maternal serum is at 16
weeks gestation when it is
approximately 3.5 µg/dL.
chorionic gonadotropin (CG).
Nuchal translucency (NT) and
pregnancy-associated plasma
protein A (PAPP-A)
fetal meconium.
Genetic counseling and treatment
for the disease must be available.
Two beam type mass
spectrometers are arranged
sequentially in tandem mass
spectrometry, with a “collision
cell” placed between the two
instruments.
42) Hyperphenylalaninemia due to classic phenylketonuria (PKU) A
is accompanied by all the following except:
a. elevation of blood tyrosine.
b. elevation in urinary phenylketones.
c. elevation in blood phenylalanine correctable by dietary phenylalanine
restriction.
d. mental retardation if left untreated.
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Chem TB Flashcards Unit 5
43) An autosomal recessive disorder:
44) The disorder that is identified by increased serum carnitine
and urine glutaric acid on newborn screening is:
45) The disorder that is identified by increased serum carnitine
and urine glutaric acid on newborn screening is
characterized by dysfunctional metabolism of:
46) A newborn screening test using a dried blood spot is
positive for congenital adrenal hyperplasia (CAH). What
laboratory testing would be done next?
47) What is the advantage of tandem mass spectrometry
(MS/MS) multiplex analysis?
48) Of the following, what is the inborn error of metabolism for
maple syrup urine disease?
49) Of the following, what is the inborn error of metabolism for
medium chain acyl-CoA dehydrogenase deficiency?
50) Of the following, what is the inborn error of metabolism for
glutaric acidemia type 1?
51) Of the following, what is the inborn error of metabolism for
glycogen storage disease?
52) Of the following, what is the inborn error of metabolism for
alkptonuria?
53) Of the following, what is the inborn error of metabolism for
propionic acidemia?
54) A newborn infant is observed to have symptoms of poor
feeding, vomiting, lethargy, and irritability. Screening tests
reveal elevated ornithine and ammonia in the infant’s blood.
What type of disorder do these symptoms indicate?
55) Dietary restriction of foods containing the branched-chain a.
amino acids is one of the treatments required for individuals
with:
56) You have been asked to direct a pharmacogenetics testing a.
laboratory in a hospital with many transplant patients who
receive mercaptopurine derivatives to control transplant
rejection. What enzyme phenotyping or genotyping services
would be the highest priority to establish initially?
57) You are appointed director of the county hospital cardiac a.
laboratory and have been asked to identify individuals that
might not respond well to platelet-inhibiting, clotdestroying drugs. What polymorphic genes would you be
most interested in having genotyped to discover these
individuals?
is defined as one in which there
is a mutation in both alleles
encoding for a specific
enzyme/transporter.
glutaric acidemia type 1.
tryptophan, hydroxylysine, and
lysine.
A second-tier test for CAH, such
as an MS/MS steroid profile
Multiple metabolites are detected
simultaneously in one blood
sample to allow for detection of
several disorders at once.
Aminoacidopathy
Disorder of fatty acid oxidation
Organic acidemia
Disorder of carbohydrate
metabolism
Aminoacidopathy
Organic acidemia
Urea cycle disorder
Maple syrup urine disease
Thiopurine methyltransferase
(TPMT) genotyping
CYP2C19
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Chem TB Flashcards Unit 5
58) Bilirubin is an important endogenous substrate of what
a.
enzymes?
59) Regarding pharmacogenetics, a phase 1 enzyme
metabolizes drugs by:
60) A combination of alleles that are located closely together on
a.
the same chromosome and are inherited together is the
definition of:
61) Tamoxifen is a drug that is used to prevent or treat some a.
forms of breast cancer. Before it can have a physiological
effect, tamoxifen must be metabolized to an active
metabolite called endoxifen. Tamoxifen is therefore
considered to be a:
62) A drug substrate for the metabolizing enzyme UGT1A1 is:
63) A drug substrate for the metabolizing enzyme CYP2D6 is
UGT1A1
Oxidizing a drug substrate.
Haplotype
Prodrug
Irinotecan.
Tamoxifen.
64) The metabolizing enzyme that catalyzes the transfer of an a. NAT1.
acetyl moiety from acetyl-CoA to homocyclic and
heterocyclic arylamines and hydrazines in, for example,
substrates related to cigarette smoke is:
65) Which two of the following metabolizing enzymes are
a. VKORC1 and CYP2C9
involved in metabolism of warfarin?
66) The enzyme that metabolizes 5-fluorouracil is:
a. DPD.
67) A limitation of using genotyping in pharmacogenetic testing
a. Interindividual variation in gene
would be:
expression.
68) A pharmacogenetic drug-gene target would be most
successful when clinically implemented when:
69) What enzymes is considered a phase 1 enzyme?
Is associated with a clinically
significant effect on the
relationship between drug dose
and plasma concentration.
a. CYP2C6
70) The HLA gene and its variants that have been associated
B
most closely with drug hypersensitivity and can be assessed
in a laboratory is HLA-:
71) The most basic level of chromatin organization that is
a. Nucleosome.
present as repeated units along the full length of each
chromosome is represented by the:
72) The main goal of the ENCODE Project is to:
a. Identify all functional elements
within the human genome.
73) DNA replication is referred to as semiconservative because:a. Newly duplicated DNA
molecules are composed of one
parent and one daughter strand.
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Chem TB Flashcards Unit 5
74) The protective nucleotide sequences that are located on the
end of a chromosome and make up part of constitutive
heterochromatin is referred to as the:
75) If 30% of the nucleotides in a genome are A (adenine), what
a.
would be the percentage of nucleotides that are G
(guanine)?
76) DNA and RNA differ, in part, because of their sugar
a.
molecules. What is missing on the DNA sugar that is
present in the RNA sugar?
77) DNA methylation as a means of regulating gene expressiona.
is restricted to what bases?
78) In regard to replication, the “parent” strand of
deoxyribonucleic acid (DNA):
Telomere.
20%
Hydroxyl group
Cytosine bases in the
dinucleotide sequence CG
a. Has a sequence that is
complimentary (opposite) to the
daughter strand being replicated.
79) In regard to the components of the genetic code, a “codon”
Sequence of three nucleotides.
is a:
80) The conversion of mRNA nucleotide sequences and the a. Translation.
tRNA-attached amino acids into a polypeptide is referred to
as:
81) In regard to DNA, an exon is defined as a:
a. Segment of DNA that is
represented in a mature strand of
mRNA and is translated into a
protein.
82) During replication, the addition of bases occurs
a. In the 5' to 3' direction.
83) What sequences contains a signal that indicates the end of a
protein?
a. 5' GUG ACU AGG UGG CGA CCC UAU 3'
b. 5' AAC CGA CUC AUC CAG GUA UAA 3'
c. 5' ACC CGA CCA UCC AGG CUG AGG 3'
d. 5' AGC CGA CUC AUC AGG UUU GAU 3'
84) Transfer RNA (tRNA):
85) In regard to transcription, an example of a core promoter
sequence on a DNA strand is the TATA box. Core
promoters are:
B
contains the anticodon region
that binds to mRNA codon in the
ribosome.
sequences of nucleotides that are
recognized by RNA polymerase
II and that control the initiation
of transcription.
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Chem TB Flashcards Unit 5
86) A woman inherits a specific allele from her mother and
develops a specific disease syndrome. Another woman
receives the same specific allele from her father and
develops a much milder form of the disease. This is likely
an example of:
87) What statements concerning the difference between DNA
and RNA is correct?
88) The expressed function or biological effect of a gene
product is termed a:
89) What statements concerning mitochondrial DNA (mtDNA)
is incorrect?
90) A noncoding RNA is one that:
91) Regarding transcription, the proteins that help to position
eukaryotic RNA polymerase II at the core promoter region
are referred to as:
92) The proteins that wrap DNA tightly to condense it into
nucleosomes are called:
93) In regard to DNA structure, a sugar/phosphate group with
its attached base is referred to as a(n):
94) The conversion of an mRNA sequence into a string of
covalently bonded amino acids is a process referred to as:
95) In regard to excision of introns and splicing of exons in a
primary RNA transcript, the spliceosome is made up of:
96) You have prepared a restriction enzyme digest of DNA
from an individual who might have a genetic disorder. On
the gel, you note that the digest from this individual
produces one fragment, whereas the digest from a normal
healthy individual produces two fragments. All controls
worked correctly and you used the same reagents for all
testing. What is your interpretation?
97) The purpose of restriction fragment polymorphism analysis
(RFLP) is to:
98) You want to determine the accuracy of hybridization of a
probe to a Southern blot to eliminate binding of the probe to
incorrect target sequences. What would be an appropriate
positive control to assess assay sensitivity?
99) What is the key enzyme used in a polymerase chain reaction
(PCR)?
100) In the dideoxy-termination sequencing method, what
causes the termination of the newly synthesized DNA
strand?
mitochondrial mutation.
RNA exists typically as a singlestranded polymer that is much
shorter than DNA.
phenotype.
The mutation rate of mtDNA is
20 times lower than that of
nuclear DNA.
has a biological function but does not
code for a protein.
general transcription factors.
histones.
nucleotide.
translation.
small nuclear ribonucleoprotein
particles.
The diseased individual’s DNA
is missing a restriction site.
identify the presence of
mutations or sequence changes.
identify the presence of
mutations or sequence changes.
Polymerase
Addition of a dideoxynucleotide
7
Chem TB Flashcards Unit 5
101)
In real-time PCR:
102) False positive results in molecular testing are most
likely caused by what
103) What procedures can be used to avoid contamination
with PCR reaction product (amplicon) when performing a
PCR procedure?
a. Use of positive displacement pipettes
b. Use of closed-tube methods
c. Physical separation of preamplification and
postamplification rooms
d. All of the above
104) What statements regarding DNA gel electrophoresis is
true?
105)
The annealing step in a PCR involves:
106) When performing a PCR procedure, what is the best
control to run to assess the presence of amplicon?
107) An example of a signal amplification technique (as
opposed to a target or probe amplification technique) would
be:
108) How does a dideoxynucleotide (ddNTP) that is used in
DNA sequencing methods differ from a typical
deoxynucleotide (dNTP) present in normal DNA?
109) In a pyrosequencing reaction, the incorporation of a
nucleotide releases _____. Eventually, visible light is
produced by an enzyme reaction.
110) What statements regarding single-stranded
conformational polymorphism (SSCP) analysis is incorrect?
one can observe amplified
nucleic acid fragments as they
are synthesized.
Contamination with amplicon
D
Polyacrylamide gel can separate
smaller fragments of DNA with
high resolution and is best for
single-stranded nucleic acid
separation.
binding of the primers to the
single-stranded DNA.
Blank control
branched-chain amplification.
ddNTPs lack a hydroxyl group at
the 3' carbon
pyrophosphate
In SSCP, separation of a PCR
product is performed with a gel
that includes a concentration
gradient of denaturants.
111) If RNA is to be used in a PCR amplification procedure, A reverse transcription procedure
what is the initial step that must be performed?
must be performed to form
cDNA.
112) The increase in the quantifiable signal observed early on initial amount of target DNA.
in real-time PCR is dependent upon the:
113) What type of assay is hybrid capture?
Solution-phase hybridization
114) When combined with real-time PCR, melting curve
examine a single nucleotide
analysis is done to:
variant genotype in a short
amount of time.
115) Gene expression microarrays quantify:
relative amounts of different
messenger RNAs in samples.
8
Chem TB Flashcards Unit 5
116) Regarding detection methods, the most common and
preferred sequence-specific label for probes used in nucleic
acid analysis is a(n) _____ label.
117) What is the name given to the probe types used in realtime PCR that change fluorescence through fluorescence
resonance energy transfer (FRET) upon duplex formation?
118) In a PCR, a control nucleic acid sequence that is
different from the target sequence is added to each sample
to:
119) What is the purpose of the labeled oligonucleotide
probe used in hybridization assays?
120) An enzyme that hydrolyzes one or more phosphodiester
bonds in nucleic acid polymers is called a:
121) A single nucleotide variant (SNV) that produces a
misplaced termination codon in a polypeptide chain is
called a:
122) A single nucleotide variant that produces a misplaced
termination codon in a polypeptide chain results in:
123) Polymorphic DNA sequences that are short tandem
repeats 1 to 13 base pairs in length are referred to as:
124) On average, how much of a gene sequence is removed
as introns, leaving the exons to be spliced together and
translated into protein?
125) What is a similarity between bacterial and human
genomes?
126) Polymorphic repeated DNA sequences that are
sometimes referred to as minisatellite sequences and are
between 14 and 500 base pairs in length are called:
127) What statements regarding the human genome below is
correct?
128) If you were interested in studying plasmid structure,
what cell types would be appropriate for you to examine?
129) In the following sequences, the normal amino acid
sequence is given first followed by a sequence that is
produced by a sequence alteration. Identify the type of
sequence alteration that most likely causes the altered
amino acid sequence.
Normal Sequence: Phe-Asn-Pro-Thr-Arg
Mutated Sequence: Phe-Asn-Pro
What type of sequence alteration most likely caused the
mutation?
fluorescent
Hybridization
control for the presence of
inhibitors in the sample that
might inhibit polymerase
activity.
To detect the presence of a
specific nucleotide sequence
nuclease.
nonsense variant.
premature polypeptide chain
termination.
microsatellites.
95%
Presence of double-stranded
DNA
a variable number of tandem
repeats.
Mobile genetic elements
(transposons) comprise almost
half of the human genome.
Bacterial cells
Nonsense
9
Chem TB Flashcards Unit 5
130) In the following sequences, the normal amino acid
sequence is given first followed by the sequence that is
produced by a sequence alteration. Identify the type of
sequence alteration that most likely causes the altered
amino acid sequence.
Normal Sequence: Phe-Asn-Pro-Thr-Arg
Mutated Sequence: Phe-His-Pro-Thr-Arg
What type of sequence alteration most likely caused the
mutation?
131) A virus does not need as much nucleic acid for the
production of protein as bacteria do because:
132) Approximately what percentage of genomic DNA
D is
required to maintain the structure of chromosomes as
centromeres and telomeres?
133) The major difference between single nucleotide variants
(SNVs) and copy number variants (CNVs) is that:
134) An example of epigenetic variation that affects gene
expression would be:
135) Copy number variants comprise approximately what
percent of the human genome?
136) Match the specific hormone with its clinical usefulness.
Estriol (E3)
Prolactin
Estradiol (E2)
LH
137) Match the hormone with the disease or condition
produced by that hormone’s hypersecretion or
hyposecretion.
Prolactin
Testosterone
Progesterone
LH
138) True or False: To evaluate ovulation, basal body
temperature can be recorded. If ovulation has occurred, a
rapid decrease in body temperature is noted throughout the
luteal phase and is caused by progesterone
139) True or False: An example of a confirmatory laboratory
test used to verify a borderline abnormal newborn screening
test result in an asymptomatic individual would be gas
chromatography combined with mass spectrometry,
particularly for organic acid analysis.
Missense
viruses use the DNA of the cells
that they infect to produce
protein.
2%
BCNVs occur in stretches of
DNA from 100 to millions of
bases in size, whereas SNVs
involve single base changes.
histone modifications.
10%
Screens for fetal Down
syndrome
Assesses amenorrhea
Assesses ovarian function
Occurrence of ovulation
Galactorrhea
Precocious puberty
Can’t maintain endometrium
Polycystic ovary syndrome
False
True
10