Chem PPT Flashcards, Unit 5
Reproductive hormones of hypothalamicpituitary-gonadal axis are:
The function of the testes is to:
Sertoli cells are found in the:
Sertoli cells have a crucial role in sperm
maturation and secretion of ___ which is:
The principal androgen in the human male is
___ which is required for sexual differentiation,
spermatogenesis and promotion and
maintenance of sexual maturity at puberty
GnRH is synthesized in the ___ and is
transported to the anterior pituitary gland, where
it stimulates the release of both ___ and ___.
In adult men, GnRH, LH and FSH are secreted
in pulsatile patterns with higher concentrations
found in the ___ and lower concentrations in
___.
LH acts are Leydig cells to stimulate the
conversion of ___ to ___.
FSH acts on ___ and ___ and is central to the
initiation (in puberty) and maintenance (in
adulthood) of the spermatogenesis.
Sex steroids and inhibin provide ___ feedback
control of LH and FSH secretion, respectively.
LH secretion is inhibited by ___ and by its
metabolites, estradiol (E2) and
dihydrotestosterone (DHT).
What are androgens also known as?
What are androgens?
Androgens also control or stimulate the activity
of the accessory male sex organs and
development of male secondary sex
characteristics.
What are the original anabolic steroids and the
precursor of all estrogens?
What are some types of androgens?
Gonadotropin-releasing hormone (GnRH),
Luteinizing hormone (LH),
Follicle-stimulating hormone (FSH),
Sex steroids synthesized by: Ovaries, Testes,
Adrenal glands
synthesize the sperm and androgens.
seminiferous tubules of the testes
inhibin, a glycoprotein that inhibits the pituitary
secretion of FSH.
testosterone
Hypothalamus, LH and FSH
Early morning
Late evening
cholesterol to pregnenolone
Sertoli cells and spermatocytes
negative
testosterone
Androgenic hormone or testoid
Any any natural or synthetic compound, usually
a steroid hormone, that stimulates or controls
the development and maintenance of male
characteristics
True
Androgens
Testosterone
Dihydrotestosterone
Androstenedione
Dehydroepiandrosterone
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Chem PPT Flashcards, Unit 5
What is DHT?
What is DHEA?
What is the principal androgenic steroid
hormone?
Where is testosterone produced?
To a lesser extent, testosterone is also produced
by the ovaries in females.
Small amounts of testosterone are also secreted
by the ________ glands.
What is the principal male sex hormone and an
anabolic steroid?
Why is testosterone important in male
development?
Testosterone is essential for health and wellbeing as well as the prevention of osteoporosis.
On average, in adult males, testosterone levels
are about __ to __ times greater than in adult
females.
Daily production of testosterone is about ___
times higher than females because of higher
metabolic consumption.
Which androgen is a metabolite of testosterone,
and a more potent androgen than testosterone in
that it binds more strongly to androgen
receptors?
DHT is the essential androgen responsible for
formation of primary sex characteristics in
males during embryogenesis, for development
of most male secondary sex characters at
puberty, and for adult male sexual function.
Where is DHT produced?
What does DHT contribute to later in life?
What is androstenedione?
Androstenedione is the parent structure of
_____, they are converted metabolically to
testosterone and other androgens.
The use of androstenedione as an athletic or
Androstenediol
Androsterone
Dihydrotestosterone
Dehydroepiandrosterone
Testosterone
In the Leydig cells of the testes in response to
stimulation by LH of the anterior pituitary gland
true
Adrenal
Testosterone
It plays a key role in the development of male
reproductive tissues, such as the testis and
prostate.
It promotes secondary sexual characteristics,
such as increased muscle, bone mass, and the
growth of body hair.
True
7 to 8
20
Dihydrotestosterone
True
In the skin and and reproductive tissue.
Male balding, prostate growth, and sebaceous
gland activity
An androgenic steroid produced by the testes,
adrenal cortex, and ovaries.
Estrone
True
2
Chem PPT Flashcards, Unit 5
bodybuilding supplement is banned by the
International Olympic Committee, as well as
other sporting organizations.
Where is the steroid hormone DHEA produced?
DHEA is the primary precursor of ______
_______.
What is DHEA also called?
In the adrenal cortex from cholesterol
Natural estrogen
Dehydroisoansdrosterone or
dehydroandrosterone
Androstenediol
What is the steroid metabolite thought to act as
the main regulator of gonadotropin secretion?
What is a chemical byproduct created during the Androsterone
breakdown of androgens, or derived from
progesterone, that also exerts minor
masculinising effects, but with one-seventh the
intensity of testosterone?
What are the male reproductive abnormalities?
Hypogonadotropic hypogonadism
Hypergonadotropic hypogonadism
Defects in androgen action
Erectile dysfunction
Gynecomastia
What occurs when defects in the hypothalamus Hypogonadotropic hypogonadism
or pituitary prevent normal gonodal stimulation
and is
associated with decreased testosterone and
gonadotropin concentrations?
Factors include for hypogonadotropic
congenital or acquired panhypopituitarism
hypogonadism
hypothalamic syndromes
GnRH deficiency
hyperproteinemia
malnutrition or anorexia
iatrogenic causes
What is the most common form of
Kallmann syndrome
hypogonadotropic hypogonadism?
What is Kallmann syndrome?
-Results from a deficiency of GnRH in the
hypothalamus during embryonic development.
-It is characterized by hypogonadism and
anosmia (loss of sense of smell) in male or
female patients.
-It is a congenital defect with several genetic
causes that result in gonadotropic deficiency
What is a primary gonodal disorder (primary
Hypergonadotropic hypogonadism
testicular failure) characterized by increased
concentrations of LH and FSH and decreased
concentrations of testosterone?
Causes of Hypergonadotropic hypogonadism:
-acquired causes (irrigation, castration, mumps
orchitis, or cytotoxic drugs)
3
Chem PPT Flashcards, Unit 5
Which disorder arises from mutations in the
androgen receptor (AR) gene?
Testicular feminization is an old term for what
syndrome?
Androgen Insensitivity Syndrome (AIS)
True or False
Patients with Androgen Insensitivity Syndrome
(AIS) have circulating testosterone less than or
equal to that of a healthy male.
True or False
Patients with Androgen Insensitivity Syndrome
have LH concentrations that are typically
increased.
A male medical issue previously called
impotence is now referred to as?
Erectile Dysfunction is defined as?
Some causes of Erectile Dysfunction include:
A benign growth of glandular breast tissue in
men is referred to as?
Gynecomastia is associated with an increase or
decrease of what hormone ratio?
Why is transient gynecomastia is found in 60%
to 90% of all newborns?
When does the second peak of gynecomastia
occur in the male? Why?
The last peak of gynecomastia occurs in what
population and why?
-chromosome defects such as Klinefelter
syndrome
-defective androgen synthesis (20α-hydroxylase
deficiency)
-testicular agenesis; seminiferous tubular
disease
-aging is associated with gonadal failure
causing decreased testosterone secretion
Androgen Insensitivity Syndrome (AIS)
Androgen Insensitivity Syndrome (AIS)
individuals with a male karyotype (46, XY)
with female external genitalia and intraabdominal testes.
False
Greater than or equal to
True
Erectile Dysfunction
the persistent inability to develop or maintain a
penile erection that is sufficient for intercourse
and ejaculation in 50% or more of attempts
vascular disease
diabetes mellitus
hypertension
uremia
neurologic disease hypogonadism,
hyperthyroidism
hypothyroidism
neoplasms
drugs
Gynecomastia
Associated with an increase in the
estrogen/androgen ratio
because of high estrogen concentrations that
cross the placenta
second peak occurs during puberty in 50% to
70% of healthy boys which may be due to low
serum testosterone, low DHT, or high
estrogen/androgen ratio
last peak is found in the adult population most
frequently among men aged 50 to 80 years,
which may be due to testicular failure or
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Chem PPT Flashcards, Unit 5
What is the function of the ovaries?
What is the primary female sex hormone and is
responsible for development and regulation of
the female reproductive system and secondary
sex characteristics?
What do estrogen and progesterone participate
in the regulation of?
What else does estrogen have an effect on?
Which plasma proteins concentrations are
increased by estrogen?
Which estrogen is the primary form of estrogen
in the body during menopause?
Which estrogen is the predominant estrogen
during reproductive years both in terms of
absolute serum levels as wel as in terms of
estrogenic activity?
Estradiol (E2) is the strongest with a potency of
approximately how many times that of estriol?
What is the most important estrogen in nonpregnant females who are between the
menarche and menopause stages of life?
What is the predominant circulating estrogen in
terms of serum levels during pregnancy?
What is the most abundant of all estrogens but
also the weakest?
What estrogen is produced only during
pregnancy?
Where are estrogens primarily secreted?
Where are minute quantities of estrogens
secreted?
What hormones are produced by healthy human
ovaries?
What is the main source of estrogens in
pregnant women?
What is the main source of estrogens in nonpregnant women?
increase body fat resulting in increased
peripheral aromatization of testosterone to
estradiol (E2).
To produce ova and secrete the sex hormones
progesterone and estrogen
Estrogen
1) Menstrual cycle
2) Breast and uterine growth
Maintenance of pregnancy
Calcium homeostasis and is therefore beneficial
to bone mass
1) SHBG
2) Corticosteroid binding globulin
Thyroxine binding globulin
Estrone (E1)
Estradiol (E2)
80 times
Estradiol (E2)
Estriol (E3)
Estriol (E3)
Estetrol (E4)
1) Ovarian follicles
2) Corpus luteum
Placenta (during pregnancy)
1) Adrenal glands
Testes (In men)
1) Estrogens
2) Progestogens
Androgens
Placenta
Ovaries
5
Chem PPT Flashcards, Unit 5
What is the major estrogen secreted by the
ovaries?
What is the major product secreted by the
placenta?
What is E3 formed from in the placenta?
What is the predominant hormone during late
pregnancy?
What hormone is an endogenous steroid and
progestogen sex hormone involved in the
menstrual cycle, pregnancy and embryogenesis?
What is the major progestogen in the body?
What is progesterone a metabolic intermediate
in the production of?
Progesterone plays an important role in the
function of what part of the body?
Progesterone is important in what part of
pregnancy?
In non-pregnant women, from where is
progesterone mainly secreted?
During pregnancy, what becomes the major
source of progesterone?
What are minor sources of progesterone?
The median age of menarche in the united states
is ___?
Adrenarche precedes puberty by a __
(few years/few months)?
During the normal menstrual cycle, a closely
coordinated interplay of feedback occurs. What
3 organs and/or glands play a role for theses
effects to occur.
What hormone changes lead to functional and
structural changes in the ovaries, uterus, cervix
and vagina?
A menstrual cycle consists of what 3 phases?
What are the 5 major hormones that influence
the control and effects of the normal menstrual
cycle?
This is an individual who is genetically female
but whose phenotype characteristics are to
varying degrees, male.
The most common cause of congenital adrenal
hyperplasia (CAH) is the deficiency of what?
Maternal androgen excess due to maternal
E2
E3
Plasma dehydroepiandrosterone sulfate
(DHEAS)
E3
Progesterone (P4)
Progesterone
Other endogenous steroid including sex
hormones and corticosteroids
The brain, functioning as a neurosteroid
Preparing the uterus for implantation of the
blastocyst and in maintaining pregnancy
Corpus luteum
Placenta
1) Adrenal cortex
Testes (in men)
12.43 years
few years
hypothalamus, anterior pituitary gland
and the ovaries
Cyclic hormone
follicular phase, ovulation
and luteal phase
GnRH, FSH, LH, Estradiol
and Progesterone
female pseudohermaphroditism
21-hydroxylase
female pseudohermaphroditism
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Chem PPT Flashcards, Unit 5
ovarian tumor or drug intake also causes what
type of female reproductive abnormalities with
masculinized external genitalia.
3 Causes in concerning deficiencies of enzyme
activities for female pseudohermaphroditism are
3ß Hydroxysteroid dehydrogenase - Type 2,
11ß-Hydroxylase - type 1 and what other
enzyme?
The onset of puberty at an abnormal early age
younger than 8 years old for boys and younger
than 9 years old for female is called?
What is the link between breast cancer and the
effect of estrogen?
Who else is at risk for breast cancer?
What is defined as women who have never
menstruated?
Define secondary amenorrhea
21 - Hydroxylase
Precocious puberty
Patients who have had surgical removal of an
ovary have been given estrogen as treatment,
which is a linked cause to breast cancer
Treatment for men with estrogen for prostatic
cancer, and those going through transsexual
operations have an increased risk of breast
cancer
Primary amenorrhea
Women whom menstruation is present for a
variable time and then stops
What is oligomenorrhea?
Very light menstration
Name 2 other female reproductive abnormalities Progesterone challenge for evaluating
that have not yet been mentioned
amenorrhea, and androgen excess
Define Hirsutism
Excessive hairiness of women in parts of the
body where hair does not normally occur (or is
minimal)
Give an example of an area where Hirsutism
Chin or Chest
might occur?
What is defined as the development of male
Virilization
physical characteristics in females (or
precociously in a boy) as a result of too much
androgen production
Give some examples of such male physical
Muscle bulk, body hair, and a deep voice
characteristics in females in Virilization
What three things evaluate male infertility?
Semen, obstruction, endocrine parameters
Evaluation of semen includes what?
Semen analysis measures ejaculate volume, pH,
sperm count, motility, forward progression, and
morphology
What is included in Evaluation of obstruction?
Testosterone produced after administration of
hCG causes the seminal vesicles, epididymis,
and prostate to increase the volume of ejaculate
Evaluation of endocrine parameters includes
Hypergonadotropic hypogonadism
what?
Hypogonadotropic hypogonadism
What is evaluated in female infertility?
Ovulation, endocrine parameters
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Chem PPT Flashcards, Unit 5
What is evaluated in ovulation?
Evaluation of endocrine parameters?
Female infertility
Hypergonadotropic hypogonadism
Hypogonadotropic hypogonadism
What is Measurement of Total Testosterone in
Enzyme (nonisotopic) Immunoassays, Tandem
Blood?
Mass Spectrometry (MS/MS), Isotope Dilution
Gas, Chromatography Mass Spectrometry
(IDGC-MS)
the reference method for testosterone
measurement
Liquid Chromatography MS/MS method
What is the method of choice?
Mass Spectrometry
Why is mass spectrometry the method of
the only method that can accurately and
choice?
precisely quantify testosterone concentrations
below 5.2 nmol/L
What is the analytical methodology?
Measurement of Free and Weakly Bound
Testosterone in blood
How is Measurement of
Mass spectrometry
Dehydroepiandrosterone and its Sulfate (DHEA Immunoassays
and DHEA-S) obtained?
Double isotope derivative methods
Competitive protein binding assays
How is Measurement of 17-ketosteroids in urine Mass spectrometry, Zimmermann reaction
obtained?
How is Measurement of Anabolic Steroids
Measurement of testosterone/epitestosterone
obtained?
ratio
measurement of testosterone/LH ratio in urine
How measurement of Luteinizing Hormone and These are must be able to recognize the unique
Follicle-Stimulating Hormone are?
β subunits of these hormones, serum or urine
as specimens, two-site (double antibody)
heterogenous immunoassays
What are the primary form the primary link
between fetus and mother?
What are the functions of placenta?
That are the placenta and the umbilical cord
How many placental hormones are?
These are:
Human chorionic gonadotropin (hCG)
Human placental lactogen (hPL)
Placental steroids
Progesterone
estradiol (E2),
estriol (E3)
estrone (E1)
It keeps the maternal and fetal circulation
system separate, nourishes the fetus, eliminates
fetal waste, and produces hormones vital to
pregnancy
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Chem PPT Flashcards, Unit 5
What is amniotic fluid?
Amniotic fluid is a clear, slightly yellowish
liquid that surrounds the unborn baby (fetus)
during pregnancy, which is contained in the
amniotic sac.
What are functions of amniotic fluid?
It provides a medium in which a fetus readily
moves, cushions it against possible injury, and
helps maintain a constant temperature
What are the tests needed during
pregnancy?
•
•
What are the tests required during
pregnancy tests?
What are the clenical specimens for
fetal health?
Laboratory testing
The following laboratory tests are
recommended as part of a
preconception evaluation:
• Hematocrit
• Blood type and Rh
compatibility
• Erythrocyte antibody
screen
• Papanicolaou smear (or
human papillomavirus
[HPV] test)
• Urinalysis
Rubella titer
•
Laboratory testing
• Rapid plasma reagin
(RPR) test
• Gonococcal and
chlamydia DNA tests
• Cystic fibrosis carrier
status
• Human
immunodeficiency virus
(HIV) antibody
• Hepatitis B surface
antigen (HBsAg)
• Screening for fetal
neural tube defects and
Down syndrome
fetal fibronectin (fFN)
•
Clinical specimens:
• paternal saliva, serum
and blood
• paternal saliva, serum,
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Chem PPT Flashcards, Unit 5
What are the complications of
pregnancy?
What are the complications of
pregnancy?
blood and urine
• amniotic fluid obtained
by amniocentesis or
from pools of fluid in
the vagina after
rupture of the fetal
membranes
• chorionic villi
• fetal blood obtained by
percutaneous umbilical
blood sampling
fetal tissue obtained by biopsy
•
Abnormal pregnancies
• Ectopic pregnancy and
threatened abortion
• Occurs when a
fertilized egg implants
in a location other than
the body of the uterus
(e.g. – fallopian tube)
• Management is by
laparoscopy (surgery)
or medical (with
intramuscular
administration of
methotrexate).
Early detection and proper
management are the most effective
means of preventing maternal
morbidity and mortality.
•
Abnormal pregnancies
• Preeclampsia and
eclampsia
• Preeclampsia is a
pregnancy condition
characterized by
hypertension,
proteinuria and often
edema occurring late in
the second trimester or
early in the third
trimester.
• The only cure for
preeclampsia is
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Chem PPT Flashcards, Unit 5
What are the complications of
pregnancy?
What are some symptoms of hyperemesis
gravidarum?
What are some symptoms of cholestasis of
pregnancy?
What are some charactertistics of acute fatty
liver of pregnancy?
What are some signs of non–pregnancy-related
liver disease in pregnancy?
delivery of the
placenta.
If the mother develops convulsions,
the condition is called eclampsia.
•
Abnormal pregnancies
• HELLP syndrome
• Hemolysis, elevated
liver enzymes, and low
platelet counts in
association with
preeclampsia
• Thrombocytopenia and
disseminated
intravascular
coagulation are the
most prominent
features
• LD, ALT, AST are
elevated
• Treatment is delivery
• Postpartum
management of the
patient may require
plasmapheresis or
organ transplantation
It is characterized by nausea, vomiting,
dehydration and malnutrition occurring in the
first trimester
Occurring in the third trimester manifested by
diffuse pruritus and jaundice, and ALP, AST,
ALT and Prothrombin time are elevated
- It is characterized by accumulation of
microvesicular fat in the hepatocytes and AST,
ALT, bilirubin are elevated.
- Hypoglycemia, hyperuricemia and renal
failure may occur.
- Cholestasis during pregnancy may reflect the
presence of hepatotoxicity from drugs, primary
biliary cirrhosis, Dubin-Johnson syndrome or
cholelithiasis.
- Mothers who acquire hepatitis B late in
pregnancy or who are chronic carriers are likely
11
Chem PPT Flashcards, Unit 5
What is neonatal thyroid function?
What is hemolytic disease of the newborn?
How is Trophoblastic disease monitored?
What is neural tube defects?
What are some other names for neural tube
defects?
What deficiency is associated with neural tube
defects?
How Fetal anomalies are detected?
What is an initial screening test to identify
women at high risk for having an affected fetus
in Neural tube defects?
How confirmation of Neural tube defect is
done?
What is the most common serious disorder of
the autosomal chromosomes?
What chromosome is affected in down
syndrome?
What are symptoms of Down syndrome?
to transmit the disease to their babies.
- Low maternal thyroid hormones have been
associated with preterm delivery, fetal death and
a reduced intelligence quotient (IQ) in children.
- If the mother has pre-existing Graves disease,
her autoantibodies are able to cross the placenta
and stimulate the fetal thyroid gland causing the
fetus to develop hyperthyroidism.
- It is a fetal hemolytic disorder caused by
maternal antibodies directed against antigen on
fetal erythrocytes.
- Also called isoimmunization disease, Rh
isoimmune disease, Rh disease, D
isoimmunization and fetal erythroblastosis
- Can be caused by erythrocyte surface antigens
such as Rh(CcDEe), A, B, Kell, Duffy, Kidd.
Serum hCG determinations are very useful for
monitoring patients with trophoblastic disease,
germ cell-derived neoplasm and other hCGproducing tumor.
Serious abnormalities that occur early in
embryonic development associated with failure
neural tube formation leading to permanent
developmental defects of the brain, spinal cord
or both.
These defects are called anencephaly, spina
bifida (the most common defect being a
meningomyelocele) and encephalocele.
Folic acid deficiency is associated with
increased frequency of neural tube closure
defects
By prenatal screening include 1) neural tube
defects
2)Down Syndrome, and 3) trisomy 18
Serum AFP concentrations
By high-resolution ultrasound, measurement of
AFP, and measurement of acetylcholinesterase
in amniotic fluid to determine whether the fetus
had an open neural tube defect.
Down syndrome (Trisomy 21)
An extra copy of chromosome 21
Moderate to severe mental retardation,
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Chem PPT Flashcards, Unit 5
What increases the incidence of down
syndrome?
What are Prenatal diagnostic testing for Down
Syndrome?
What chromosome is affected in Trisomy 18
(Edwards syndrome)?
What is the most common chromosome defect
at the time of conception?
What are Prenatal diagnostic testing for
Trisomy 18 (Edwards syndrome)?
hypotonia (low muscle tone), congenital heart
defects and a flat facial profile.
A woman’s risk of having a Down syndrome
baby increases slowly up to age 30 and then
steadily increases between ages 30 and 45 to a
plateau
AFP measurements are used as a screening test.
Confirmed by unconjugated estriol (uE3), hCG
and inhibin A (inhA)
“quadruple test”
extra copy of chromosome 18
Trisomy 18 (Edwards syndrome)
Screening is done by measurements of AFP,
unconjugated estriol (uE3), hCG and inhibin A
(inhA)
What is preterm delivery?
Delivery before 37 weeks gestation
What is the leading cause of neonatal mortality? Preterm delivery
Define premature rupture of membranes
Rupture of the fetal membranes before the onset
(PROM)?
of uterine contractions
What is Respiratory distress syndrome (RDS)?
Is the most common critical problem
encountered in preterm newborns, caused by a
deficiency of pulmonary surfactant.
Inhibin A is a good predictor of what defect?
It is a predictor of Down syndrome.
What other disorders does Inhibin A help to
It can also be applied for ovarian cancer
monitor?
monitoring, disorders of ovulation and early
detection of viable pregnancy following IVF.
Where is Inhibin A produced during pregnancy? It is produced by the fetoplacental unit
beginning in early pregnancy.
What are the storage requirements for Inhibin
It is stable in maternal serum with shipment at
A?
ambient temperature and storage at 4-8 C for 1
week.
What is alpha fetoprotein?
It is a glycoprotein produced initially by the
fetal yolk sac in small quantities, and then by
the fetal liver in larger quantities as the yolk sac
degenerates.
Early detection of alpha fetoprotein can be
Concentrations in maternal serum and amniotic
indicative of which disorders?
fluid are useful in detecting serious fetal
anomalies like fetal open neural tube defects,
fetal Down syndrome, and trisomy 18.
Why would alpha fetoprotein be tested if the
AFP measurement in non-pregnant patients may be
patient is not pregnant?
used for monitoring certain cancers.
By which method is alpha fetoprotein
measured?
Measured in the laboratory by immunometric
methods.
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Chem PPT Flashcards, Unit 5
Which is the most common estrogen studied for
Down syndrome?
At which point in pregnancy is estriol
production at its peak?
Does the biosynthetic pathway require the fetal
adrenal gland, fetal liver and placenta to be
fully functioning?
How is estriol measured in the lab?
What is human chorionic gonadotropin (hCG)?
Unconjugated estriol is the most specific of the
estrogens for identifying a fetus with Down
syndrome.
It is produced in very large amounts during the
last trimester of pregnancy.
Yes
Measured by non-isotopic, automated
immunometric methods using serum as
specimen. Rapid separation of serum from
blood clot is a necessity.
It is a glycoprotein heterodimer hormone,
synthesized in the syncytiotrophoblast cells of
the placenta, composed of two non-identical,
non-covalently bound glycoprotein subunits –
alpha(α) and beta (β).
Measurement of hCF assists in diagnosing
which defecfs?
Measurement of hCG assists in diagnosing and
dating pregnancy, identifying ectopic
pregnancies and other abnormalities, managing
certain neoplasms, and predicting the risk of
Down syndrome and trisomy 18.
How is hCG measured in the lab?
Measured by qualitative methods using urine or
serum as specimens or by quantitative methods
using serum as specimen
What are low concentrations of PregnancyAssociated Plasma Protein-A associated with
early in pregnancy?
What does Pregnancy-Associated Plasma
Protein-A play a critical role in?
Why?
Down Syndrome, a high rate of fetal loss, poor
fetal growth, premature delivery, hypertension,
and preeclampsia.
Normal fetal growth
What does fFN stand for?
What is fFN?
What are elevated levels of fFN used as a test
aid for?
How is fFN measured?
What does PAMG-1 stand for?
What is PAMG-1?
Because of its function as an insulin-like growth
factor binding protein (IGFBP) protease
Fetal Fibronectin
Protein found on cell surfaces and in plasma
and amniotic fluid.
In predicting a high risk of preterm delivery.
Using a membrane immunoassay using cervical
or vaginal mucus swabs as specimens.
Placental Alpha Microglobulin-1
A placental glycoprotein secreted into the
amniotic fluid during pregnancy, used as an aid
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Chem PPT Flashcards, Unit 5
What does PROM stand for?
How is PAMG-1 detected?
What may cause false positive results of
PAMG-1?
When might a false-negative result of PAMG-1
occur?
What is presence of bilirubin in amniotic fluid
an indicator of?
Why is it important to know the gestational age
of the fetus when detecting bilirubin in amniotic
fluid?
How is bilirubin measured in amniotic fluid?
When are some indications that a test for
evaluating fetal lung maturity should be
performed?
What is the counting of Lamellar bodies used
for?
How are Lamellar bodies counted?
for the detection of PROM.
Premature rupture of membranes.
By immunochromatographic method using
cervicovaginal fluid as specimen
Contamination of the specimen with large
amounts of blood.
If the specimen is collected 12 or more hours
after a rupture that is subsequently obstructed
by the fetus.
Fetal erythroblastosis
Because the amount of bilirubin present in the
amniotic fluid changes with gestational age.
By a direct spectrophotometric method referred
to as ΔA450 test
before repeat cesarean delivery when the age of
gestation is uncertain
preterm labor
premature rupture of membranes
worsening maternal hypertension
severe renal disease
intrauterine growth retardation
fetal distress
Assessing fetal lung maturity.
Lamellar bodies have been counted directly using the
platelet channel of whole blood cell counters
(lamellar body count)
What are Lamellar bodies produced by?
Does the quantity of Lamellar bodies increase
or decrease as gestation advances?
What are Lamellar bodies counted on?
During the counting of Lamellar Bodies, what
Lamellar Body Count (LBC) indicates fetal
lung maturity?
Type II alveolar cells
Increase
What does the contamination with whole blood
do to the lamellar body count?
It decreases Lamellar Body Count
What will contamination of the smallest amount
of meconium do to lamellar body count?
It dramatically increases Lamellar Body Count
How does one perform a lamellar body count?
With hematology analyzers using the platelet
count channel.
Electronic cell counters.
Greater than 50,000 counts/microliter
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Chem PPT Flashcards, Unit 5
What lamellar body count is necessary to
correspond to adequate fetal lung surfactant
levels?
Lamellar Body Count of 35,000 per microliter.
What LBC indicates immature fetal lung
development?
0-15,000 counts/microliter
What LBC indicates intermediate fetal lung
development?
15,000- 50,000 counts/microliter
What represents 85% of surfactants in the body? Lecithin
Why are surfactants important for assessing
fetal lung maturity?
During assessment of fetal lung maturity what
Lecithin/Sphingomyelin ratio (L-S ratio)
indicates fetal lung maturity and decrease in
respiratory distress syndrome?
Lungs require surfactant, a soap-like substance,
to lower the surface pressure of the alveoli in
the lungs. This is especially important for
premature babies trying to expand their lungs
after birth.
L-S ratio of 2 or more
What L-S ratio is considered high risk of
respiratory distress syndrome?
L-S ratio of less than 1.5
How is the amniotic fluid collected and what
must be done to it before determining the L-S
ratio?
An amniotic fluid sample is collected via
amniocentesis and the sample is spun down in a
centrifuge at 1000 rpm for 3–5 minutes.
What is the best way to determine L-S ratio and
why?
What is also tested with L-S ratio to determine
the lung profile?
Thin layer chromatography (TLC) on the
supernatant. TLC is good because Lecithin and
sphingomyelin are relatively easy to identify
and the predictive value of the test is good.
Phosphatidylglycerol (PG) test is comined with
L-S ratio to determine lung profile.
As the gestation ages, what happens to the
Phosphatidylglycerol (PG) concentration?
The concentration of PG increases as gestation
ages.
What level of PG is considered positive on most
TLC techniques?
Greater than 2 µmol/L.
What is Inborn Errors of Metabolism (IEM)?

These are genetically determined
biochemical disorders affecting an
individual’s ability to convert nutrients
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Chem PPT Flashcards, Unit 5
What is Abnormal Metabolites (Substrates)?
What us Inheritance Pattern of Metabolic
Disorders?
What is Autosomal Recessive Inheritance?
What is the percentage of a child that inherited
from their parents?
What is Clinical Presentation of Metabolic
Disorder?
What is the biochemical diagnosis?
What is Newborn Screening test?
or to use them for energy production.
 They are caused by impaired activity of
enzymes, transporters, or cofactors and
result in the accumulation of abnormal
metabolites (substrates).
Typically present in newborn period or in
infancy, but some may not be detected until
adulthood.
It a substrate accumulation is block or
deficiency product.
Inheritance Pattern Metabolic disorders are
caused by mutations in genes that code for
specific enzymes or transporters involved in
metabolic pathway.
It a mutation in both alleles encoding for
specific enzyme or transporter. Because the
mutation id a gene on a nonsex chromosome
(autosome), girls are affected as often as boys.
 25% risk of affected child
 50% chance of child who is a
carrier
25% chance of child with 2 normal alleles.
The medical consequences of IEMs vary from
failure to thrive to acute illness leading in some
cases to (1) brain damage, (2) coma, and (3)
death.
Involves analysis of metabolites enzymatic activity
and DNA sequence.
 Aims to eliminate or reduce morbidity,
mortality, and disability.
 Is a public health program designed to
screen infants shortly after birth for a list
of conditions that are treatable, but not
clinically evident in the newborn period.
 Most newborn screening tests are done
by measuring metabolites and enzyme
activity in whole blood samples
collected on specialized filter paper,
however many areas are starting to
screen infants for hearing loss using
automated auditory brainstem response
and congenital heart defects using pulse
oximetry.
 Infants who screen positive undergo
further testing to determine if they are
truly affected with a disease or if the test
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Chem PPT Flashcards, Unit 5
What is Newborn Screening?
What is Follow-up?
What is Diagnosis?
What is Clinical management?
Who has the access to the education?
How does the quality assurance been verified?
How does the Second-tier testing involve?
How does the Second-tier testing requirement?
What are Newborn Screening tests?
What are the three types in Inborn Errors of
Metabolism disorders?
What are Disorders of Amino Acid Metabolism
known as Aminoacidopathies?
What are Disorders of Amino Acid Metabolism
being as Organic Acidemias?
How are Disorders of Fatty Acid Oxidation
classified?
result was a false positive.
Follow-up testing is typically coordinated
between geneticists and the infant's pediatrician
or primary care physician.
Screening (sample collection and delivery;
testing)
Follow-up (complete demographic information,
satisfactory specimens,abnormal screening
results)
Diagnosis (confirmatory tests, clinical
consultation)
Clinical management (medical home, specialist
physician, genetic counselor, dietitian)
Education (healthcare professionals, parents)
Quality assurance: analytical (proficiency
testing, quality controls, standards), efficiency
of follow-up system, efficacy of treatment,
long-term outcome)
Involves further analysis of the same blood spot
that produce an abnormal result targeting different,
more specific analytes and, using a methodology
different from the one used in the primary screening
tests.
Intended to reduce the number of infants
requiring additional confirmatory testing.
Such testing includes DNA analysis for cystic
fibrosis, MS/MS steroid profiling for congenital
adrenal hyperplasia, and TSH for congenital
hypothyroidism.
 Disorders of Amino Acid Metabolism
 Disorders of Fatty Acid Oxidation
 Disorders of Carbohydrate Metabolism





Aminoacidopathies
o Phenylketonuria
o Tyrosinemia
o Homocystinuria
Maple Syrup Urine Disease
Organic Acidemias
o Glutaric Acidemia Type I
o Isovaleric acidemia
o Methylmalonic acidemia
Propionic acidemia
Medium-Chain Acyl-CoA
Dehydrogenase Deficiency (MCAD)
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Chem PPT Flashcards, Unit 5

Long-Chain 3-hydroxyacyl-CoA
Dehydrogenase Deficiency (LCHAD)
How are Disorders of Carbohydrate Metabolism
 Glycogen Storage Disease
Inborn Errors classified?
 Glucose-6-Phosphate Dehydrogenase
Deficiency
 Classic Galactosemia
What is Aminoacidopathies?
Parent amino acid accumulates in excess in
blood and spills over into urine
What is example of Aminoacidopathies?
- Phenylketonuria
- Maple syrup urine disease
- Homocystinuria
Tyrosinemia
What do you called the disorder of amino acid
Organic acidemias
of metabolism that’s accumulation of products
in the catabolic pathway of certain amino acids?
What are examples of organic acidemias ?
- Glutaric acidemia type I
- Isovaleric acidemia
- Methylmalonic acidemia
Propionic acidemia
What is PKU?
A disorder of phenylalanine metabolism caused
by absence of phenylalanine hydroxylase
activity leading to accumulation of
phenylalanine and production of phenylketones
that are excreted in urine
What do Primary or secondary impairment of
- increased phenylalanine
phenylalanine hydroxylase cause?
- increased phenylketone
- increase phenylamines
a deficiency of tyrosine
What might Extremely elevated levels of
impairs brain development and function
phenylalanine lead to?
What are the symptoms of an untreated PKU
microcephaly, eczematous skin rash, "mousy"
patients?
odor, and severe mental retardation
What are the treatment for PKU?
a diet low in protein and phenylalanine, and
supplemented with tyrosine, minerals, vitamins
and other nutrients started from 2 weeks of age
What does it mean when saying phenylalanine Results in an increased risk of spontaneous
is teratogenic?
abortions or of having a child with growth
retardation, microcephaly, significant
developmental delays and birth defects.
Diagnosis of PKU
demonstration of increase plasma phenylalanine
and an increased phenylalanine:tyrosine ratio.
How is tyrosinemia characterized?
By elevated blood concentrations of tyrosine.
What are the three types of tyrosinemia?
Tyrosinemia type I, tyrosinemia type II, and
tyrosinemia type III.
Which is the most severe tyrosinemia?
Type I, caused by shortage of
fumarylacetoacetate hydrolase.
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Chem PPT Flashcards, Unit 5
What are the other two tyrosinemias caused by?
How and when do tyrosinemia patients usually
present symptoms?
How is diagnosis based for tyrosinemia?
How is tyrosinemia identified in newborns?
What is the therapy of tyrosinemia?
What happens if it goes untreated?
How are measurements taken in these patients?
How is alkaptonuria caused?
What does this deficiency lead to?
What does the accumulation of HGA cause?
What is the treatment of alkaptonuria and how
does it work?
How is homocystinuria characterized?
What else do patients usually develop with
homocystinuria?
Type II is caused by deficiency of tyrosine
aminotransferase; type III is caused by a
deficiency of 4-hydroxyphenylpyruvate
dioxygenase.
Usually before 6 months of age, present with
severe liver involvement, or with chronic failure
to thrive, mild hepatocellular dysfunction, renal
involvement and rickets due to renal Fanconi
syndrome.
Through the detection in urine organic acid
testing of succinylacetone, derived from
fumarylacetoacetic acid, the intermediate
immediately upstream of the enzyme defect.
Newborns are screened only when succinylacetone is
used as the primary marker, because tyrosine
usually is not elevated in the newborn period.
Low dietary tyrosine, low dietary
phenylalanine, and drug therapy.
They develop liver cirrhosis and are at very
high risk for liver cancer. Liver transplantation
is indicated in these patients.
Measuring of alpha fetoprotein is used to
monitor these patients, because liver cancer is a
complication of this condition.
By a deficiency of homogentisic acid (HGA)
dioxygenase.
It leads to the presence of HGA and its oxide
(alkapton) in the urine, bluish-black
pigmentation in connective tissue (ochronosis),
arthritis and urine that turns dark with standing
of alkalinization.
HGA in tissues causes cartilage damage in
joints specifically in the spine, leading to low
back pain at a young age.
Treatment with NTBC [2-(2-nitro-4-trifluoromethylbenzoyl0-1,3-cyclohexanedione]
prevents the formation of homogentisic acid.
By increased concentrations of the sulfurcontaining amino acid, homocysteine in blood
and urine and is caused by at least seven
genetically different disorders. It’s the most
common disorder caused by reduced activity to
cystathionine β-synthase.
Lens dislocation (often requiring surgery) and a
body habitus like that seen in Marfan syndrome
(homocysteine interferes with disulfide
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Chem PPT Flashcards, Unit 5
How does homocystinuria affect blood?
How is homocystinuria diagnosed?
What is the therapy for classic homocystinuria?
What is Maple Syrup Urine Disease (MSUD)
Where did MSUD get its name from?
Individuals with classic MSUD present what
symptoms?
How is the diagnosis for MSUD established?
What is the treatment for MSUD?
What is another name for urea cycle disorders?
What causes urea cycle defect?
What happens in the urea cycle?
What happens in urea cycle disorders?
formation in fibrillin, the protein defective
Marfan syndrome).
Patients with an increase of blood homocysteine
concentration that continues to rise are at risk of
blood clots that are a life-threatening
complication.
Diagnosis is obtained by plasma amino acid
analysis showing increase plasma
concentrations of methionine (especially in
children) and the presence of the disulfide
homocystine. It’s detected in newborn by
screening for increased concentrations of
methionine in whole blood spots.
High doses of Pyridoxine (the cofactor of
cystathionine B-synthase), a special diet low in
methionine, and administration of betaine that
donates a methyl group to homocysteine to
generate methionine.
Pyridoxine (the cofactor of cystathionine Bsynthase), a special diet low in methionine, and
administration of betaine that donates a methyl
group to homocysteine to generate methionine.
The disease is named for the presence of sweet
smelling urine with an order similar to that of
maple syrup.
Poor feeding and vomiting during the 1st week
of life followed by lethargy and coma within a
few days.
By measuring plasma amino acids and finding
increased branched-chain amino acids and the
presence of alloisoleucine, which is
characteristic of this disease.
A diet that have a restricted content of
branched-chain amino acids and includes
supplementation with high-dose thiamine and
low doses of valine and isoleucine.
Urea cycle defect
It is caused by deficiency of one of the enzymes
or a transporter in the urea cycle, which is
responsible for removing ammonia from the
bloodstream leading to hyperammonemia.
Nitrogen is removed from blood and converted
to urea, which is then excreted in urine.
Nitrogen accumulates as ammonia, a toxic
substance, and is not removed from the body.
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Chem PPT Flashcards, Unit 5
What can urea cycle disorders result into?
How is diagnosis for urea cycle disorders
accomplished?
Mental and behavioral dysfunction, coma, and
death.
It is accomplished by measuring plasma amino
acids and identifying the compound present in
excess.
How are the patients with a urea cycle disorder
treated?
With a diet low in proteins and administration
of nitrogen scavengers, such as sodium
benzoate and phenyl acetate, which bind and
remove glycine and glutamine respectively.
What results from glycine encephalopathy ?
A severe condition usually caused by defect in
P,T and H proteins of the glycine cleavage
system
What protein is involved in glycine catabolism ? H proteins
What are some adverse effect patients present
Poor suckling,lethargy,severe hypotonia,
with glycine encephalopathy ?
hiccups, seizures, and apnea
Where is the glycine located?
Found in the spinal cord and brain stem
True or false? Toxic levels of glycine can result True
in glycine Encephalopathy ?
What is Glycine Encephalopathy also know as ? Non-ketotic hyperglycinemia -NKHG
True or false ? Most patients die in the 1st few
True
months of life or survive with profound
developmental delays
What is Glutaric Academia ?
Is an inherited disorder in which the body is
unable to break down completely the amino
acids lysine, hydroxylysine, and tryptophan
What is Glutaric Acidemia caused by?
Deficiency of glutaryl-CoA dehydrogenase,
leading to accumulation of glutaric acid and 3hydroxy glutaric acid in the urine
Excessive levels of glutaryl-CoA and
3-hydroxyglutaric
___________ can cause brain damage atrophy
and macrocephaly and acute dystonia
How is glutaric academia type 1 analyze?
Diagnosis is confirmed by urine organic acid
analysis that indicated the presence of excess 3
hydroglutaric acid and the urine acylcarnitine
profile shows glutarylcarnitine as the major
peak.
What is the treatment for glutaric academia ?
Treatments consists of carnitine
supplementation to improve glutatic acid a diet
restrited in amino acids capable of producing
glutaric acid and prompt administration of
intravenous calories in the child who is unable
to eat for any reason such as infections fever
and gastroenteritis
Symptoms of Medium chain Acyl-CoA
Hypoglycemia lethargy, coma and sudden death
Dehydrogenase Deficiency ?
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Chem PPT Flashcards, Unit 5
Treatment of Medium chain Acyl-CoA
Dehydrogenase Deficiency?
Glucose is stored in the form of what ?
Where can glycogen be found ?
How is glycogen storage diseases treated?
What is Glucose-6-phosphate
dehydrogenase deficiency?
Symptoms Glucose-6-phosphate
dehydrogenase deficiency?
Consists of avoidance of fasting consumption of
low –fat foods and carnitine supplementation
Glycogen
In the liver and muscle cells
Usually treated with avoidance of fasting and a
special diet devoid of simple sugars and
supplements with uncooked cornstarch
A disorder of carbohydrate metabolism that
affects red blood cells causing hemolysis.It can
cause mild to severe jaundice in newborns and
in some cases hemolytic anemia.
can be triggered by infections, certain
antibiotics and antimalarial drugs, exposure to
fava beans (a reaction called favism).
What is Classic Galactosemia?
A disorder of carbohydrate metabolism
resulting from absence of galactose-1phosphate uridyl transferase, leading to
increased concentrations of galactose-1phosphate in cells which are toxic.
Treatment of Classic Galactosemia.
removal of lactose and avoidance of all foods
containing galactose.
-Ion-exchange Chromatography
-Liquid chromatography–Tandem Mass
Spectrometry
-Gas chromatography–Mass Spectrometry
-Tandem Mass Spectrometry (with or without
liquid chromatographic separation)
It is a Combination of pharmacology (study of
drugs) and genetics (study of inherited traits)
the study of how combinations of variations in
several genes, potentially extended to the
complete genome, influence the pharmacology
of a drug(s).
is the set of genes in our DNA which is
responsible for a particular trait.
Is the inherited set of instructions one carries
within his or her genetic code.
It is the physical expression, or characteristics,
of that trait. It is the composite of one's
observable characteristics or traits
-Selecting or avoiding a specific drug
-Selecting the optimal dose and dosing
interval
-Avoiding and minimizing adverse drug
reactions (ADR) and drug hypersensitivity
Diagnostic Tests for Inherited Disorders of
Metabolism.
What is Pharmacogenetics?
What is Pharmacogenomics?
What is Genotype?
What is Phenotype?
Medical uses for phenotype information.
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Chem PPT Flashcards, Unit 5
Which factors are Responsible in drugs
Pharmacogenetic?
Define Pharmacokinetics.
Define Pharmacodynamics.
Define Predict dosing for a drug in
Pharmacokinetics.
Describe Utility of pharmacogenetic testing?
Which institute funded Pharmacogenetics and
Pharmacogenomics Knowledge Base
(PharmGKB) ?
Two major reactions involved in what type of
drugs are as followed?
Phase I Reactions
mostly oxidative and are mediated by
cytochrome P450 enzymes (CYPs), the
major enzymes involved in drug metabolism
and bioactivation, accounting for about 75%
of the total number of different metabolic
reactions
Phase II Reactions
-Drug formulation
-Route of administration
-Clinical status
-Age
-Sex
-Co-medications
-Genetics
Pharmacokinetics: how the body acts on a
drug
Absorption, distribution, metabolism, and
elimination
Pharmacodynamics: how a drug elicits
responses from the body and whether the
response is desirable or undesirable.
Predict dosing for a drug that is known to be
clinically challenging, such as (1) due to a
narrow therapeutic index, (2) due to a limited
temporal opportunity to exert efficacy, or (3)
requiring a long period of time to establish
efficacy
-Alternative drugs are not available
-Incorporation of testing does not clearly
improve patient care
-Less sophisticated or less expensive tools
are sufficient for making prescribing
decisions
-Accommodations to specific dose or dosing
strategies are not available
Pharmacogenetics and Pharmacogenomics
Knowledge Base (PharmGKB)
Funded by the National Institutes of Health
(NIH) and part of the NIH Pharmacogenetics
Research Network (PGRN) Whose aim is to aid
researchers in understanding how genetic
variation among individuals contributes to
differences in reactions to drugs
metabolism of drugs
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Chem PPT Flashcards, Unit 5
involves enzymes that conjugate drug
analytes with acetyl, glucuronosyl, amino
acyl, or sulfate group.
Phase I consist of 4 Cytochrome P450 enzymes.
What are they?
1.Cytochrome P450 1A2 (CYP1A2)
2. Cytochrome P450 2B6 (CYP2B6)
3.Cytochrome P450 2C9 (CYP2C9)
4.Cytochrome P450 2C19 (CYP2C19)
Clopidogrel
Antidepressants (Amitryptyline)
True or False? The following consist of Phase I
Cytochrome P450 enzymes are the following:
Cytochrome P450 2D6 (CYP2D6)
Tamoxifen
Codeine
Antidepressant (Nortriptyline)
Cytochrome P450 2E1 (CYP2E1)
Cytochrome P450 3A family ( CYP3A4,
CYP3A5)
True
The following are what type of enzymes?
N-acetyltransferases (NAT1 and NAT2)
Thiopurine S-methyltransferase (TPMT)
Phase II enzymes
Uridine 5”-diphosphate (UDP)
glucuronosyltransferase 1A1 (UGT1A1)
Dihydropyrimidine dehydrogenase (DPD)
Vitamin K epoxide reductase complex 1
(VKORC1)
Human leukocyte antigen (HLA) complex,
Class I, B
What are the primary concerns of Molecular
biology?
What is Molecular biology?
The field of molecular biology overlaps with
(A)__ and (B) and in particular, (C) and
(D) .
What is one of the most rapidly developing
areas in many diagnostic disciplines?
Name the 5 branches/areas of Molecular
Diagnosis.
The interactions between the different types of
DNA, RNA and proteins and their biosynthesis,
and studies how these interactions are regulated.
Branch of science concerning biological activity
at the molecular level.
A. Biology
B. Chemistry
C. Genetics
Biochemistry
Molecular Diagnosis


Clinical Chemistry
Clinical Hematology
25
Chem PPT Flashcards, Unit 5
Name 4 major developments in genetics in late
twentieth century.
What is DNA?
What is found in DNA nucleus?
Name the 4 bases of DNA.
True or False: DNA is a short polymer with a
deoxyribose and carbon backbone.
What are the major roles of DNA?
Name the pairing of Bases:
 Clinical Immunology
 Clinical Microbiology
Tissue Pathology
 Decoding of the human genome
 Cloning of organisms
 Progress in stem cell research
Progress in gene therapy
A nucleic acid that contains the genetic
instructions used in the development and
functioning of all known living organisms.
Sugar is deoxyribose and bases
 Adenine
 Thymine
 Cytosine
Guanine
False
[long polymer and phosphate backbone]
Long-term storage and transmission of genetic
information
A-T (Adenine-Thymine)
G-C (Guanine-Cytosine)
True
True or False: Deoxyribose sugar in DNA is
less reactive because of C-H bonds.
True or False: Deoxyribose sugar is stable in
True
alkaline conditions.
True or False: DNA has smaller grooves where True
the damaged enzyme can attach too, making it
harder for the enzyme to attack DNA.
The helix geometry of DNA is of what form?
B-Form
DNA is completely protected by the what? How
so?
DNA can be damaged by exposure to what?
Name the 4-nucleotide building blocks of DNA.
What is RiboNucleicAcid (RNA)?
Where is RNA found in the body?
What are the bases of RNA?
The body i.e. the body destroys enzymes that
cleave DNA.
Ultra-violet rays
 deoxyadenosine triphosphate (dATP)
 deoxyguanosine triphosphate (dGTP)
 deoxycytidine triphosphate (dCTP)
deoxythymidine triphosphate (dTTP)
RNA, single-stranded chain of alternating
phosphate and ribose units with the bases
adenine, guanine, cytosine, and uracil bonded to
the ribose. RNA molecules are involved in
protein synthesis and sometimes in the
transmission of genetic information
RNA is found in nucleus and cytoplasm
RNA is a polymer with a ribose and phosphate
backbone with Adenine, Uracil, Cytosine, and
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Chem PPT Flashcards, Unit 5
What is the RNA’s main function?
How are RNA bases paired?
Name the 3 types of RNA.
What is the function of the mRNA?
What is the function of the rRNA?
What is the function of the tRNA?
Name the process responsible for the flow of
genetic information from gene to protein.
Transcription is the process of
Where does the Translation process of a cell
take place?
What is Translation?
This is the process of producing two identical
replicas from one original DNA molecule.
This protein is associated with the replication
fork which helps in terms of the initiation and
continuation of DNA. What is this protein
which synthesizes the new DNA by adding
complementary nucleotides to the template
strand?
What is this first step of gene expression, in
which a particular segment of DNA is copied
into RNA (mRNA) by the enzyme RNA
polymerase?
What are the steps in Transcription?
Guanine bases .
The main function of RNA is to transfer the
genetic code needed for the creation of proteins
from the nucleus to the ribosome. This process
prevents the DNA from having to leave the
nucleus, so it stays safe. Without RNA, proteins
could never be made.
Pairing of Bases are: A-U(Adenine-Uracil), GC (Guanine-Cytosine)
 mRNA, messenger-RNA
 rRNA, ribosomal-RNA
tRNA, transfer-RNA
To deliver the information about the amino acid
sequence from the DNA to the protein
synthesis.
To build up the ribosome together with proteins.
To transfer amino acids to the ribosome for
protein synthesis.
Gene expression
transferring sequence information from the gene
regions of DNA to a messenger RNA molecule.
Cytoplasmic ribosomes
Process whereby an mRNA sequence forms an
amino acid sequence with the help of tRNA and
eventual enzymatic peptide bond formation
between amino acids to synthesize polypeptides
Replication
DNA polymerase
Transcription


One or more sigma factor protein binds
to the RNA polymerase holoenzyme,
allowing it to bind to promoter DNA.
RNA polymerase creates a transcription
bubble, which separates the two strands
of the DNA helix. This is done by
27
Chem PPT Flashcards, Unit 5
The stretch of DNA transcribed into an RNA
molecule is called a transcription unit and
encodes at least one gene. If the gene
transcribed encodes a protein, messenger RNA
(mRNA) will be transcribed; the mRNA will in
turn serve as a template for the protein's
synthesis through what next step?
RNA plays a fundamental role in the
functions of a cell. It helps______ proteins.
Fill in the blank.
A. Synthesize
B. Regulate
C. Process
D. All of the above
The process in which cellular ribosomes
create proteins is called..
A. Translation
B. Replacement
C. Deletion
D. Transcription
mRNA is produced by transcription
from______.
A__________ decodes mRNA to produce a
specific amino acid chain.
A polypeptide an fold into a(n) ________
protein.
A. Active
B. Inactive
C. Neutral
breaking the hydrogen bonds between
complementary DNA nucleotides.
 RNA polymerase adds matching RNA
nucleotides to the complementary
nucleotides of one DNA strand
 RNA sugar-phosphate backbone forms
with assistance from RNA polymerase
to form an RNA strand.
 Hydrogen bonds of the untwisted RNADNA helix break, freeing the newly
synthesized RNA strand.
 If the cell has a nucleus, the RNA may
be further processed. This may include
polyadenylation, capping, and splicing.
The RNA may remain in the nucleus or exit to
the cytoplasm through the nuclear pore
complex.
Translation
D
A
DNA
Ribosome
A
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Chem PPT Flashcards, Unit 5
D. Denatured
Ribosomes contain the tRNA anticodons that
sequence to mRNA ______.
A string of multiple amino acids can be called a
________.
Epigenetics are ________ that alter gene
function or its interpretation by mechanisms
other than those that rely on changes in
DNA sequences.
A. Methodologies
B. Processes
C. Habits
D. procedures
Epigenetic processes include:
A. DNA Methylation, Genomic Imprinting
B. Histone Modification
C. Chromatin Remodeling
D. Any of the Above are Epigentic
processes
DNA methylation is implicated in the
______ and ________ of organisms. By the
addition of a methyl group typically to the
fifth carbon position of cytosine residues in
CpG dinucleotides.
A. growth, development
B. retardation, extinction
C. stagnation, stabilization
D. None of the Above
Genomic imprinting Refers to the phenomenon
whereby the function of each allele of a gene is
determined by its parental origin. True
statement or False
codon
Polypeptide
B
D
A
False
__________ are integral part of nucleosomes
which are the basic repeating structural unit of
chromatin
___________ are to improve accessibility of
DNA to transcriptional activation.
Histones
_________ are dynamic structures that can be
remodeled according to the transcriptional
demands of the cell.
A. Nucleosomes
B. Chromatids
C. Histones
D. Codons
A
Modifications
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Chem PPT Flashcards, Unit 5
Molecular Diagnostics requires techniques to
detect sequence variations that are minute
changes in complex __.
Tools developed for molecular diagnostics
include:
Molecular diagnostics consists of the following
4 techniques:
What are nucleases?
Nucleases are either DNA or RNA specific and
may act on only double- or single- stranded
polymers.
What are restriction endonucleases?
What are restriction endonucleases used for?
What catalyze the formation of phosphodiester
linkages between two nucleic acid chains?
What catalyze the synthesis of complementary
nucleic acid polymers using a parent strand as a
template?
What is found in retroviruses and catalyzes the
synthesis of DNA from either an RNA or a
DNA template?
Amplification techniques involve three types of
amplification these are?
In which amplification is the sequence of
interest copied many times by in vitro methods.
In which amplification does the amount of
target stay the same but the signal is increased.
In which amplification is the probe amplified
only in the presence of the target
How long does it take to achieve more than a
million-fold amplification?
What is an example of a DNA amplification
technique?
Genomes
Selection and amplification of the nucleic acid
of interest
Visualization of the amplified nucleic acids
Specific identification and often quantification
of individual nucleic acid species
Nucleic acid enzymes
Amplification techniques
Detection techniques
Discrimination techniques
Enzymes that hydrolyze one or more
phosphodiester bonds into nucleic acid
polymers.
True
Enzymes found in bacteria that degrade foreign
DNA
digesting large fragments of DNA into smaller
pieces and for preparing DNA from different
sources to be joined together in cloning
procedures
Ligases
Polymerases
Reverse tranciptase
Amplification of amount of nucleic acid target
Amplification of detection signal
Amplification of probe
Amplification of amount of nucleic acid target
Detection signal amplification
probe amplification
Less than one hour
Polymerase chain reaction (PCR)
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Chem PPT Flashcards, Unit 5
What are some additional amplification
methods?
This amplification technique in molecular
biology is used to amplify a single copy or a
few copies of a piece of DNA across several
orders of magnitude, generating thousands to
millions of copies of a particular DNA
sequence.
PCR is a method that relies on what kind of
cycling?
Describe the process of thermal cycling used in
PCR
Short DNA fragments are also known as
These fragmets contain the sequences that are
complementary to the target region along with
which enzyme?
Which two components are needed to enable
selective and repeated amplification?
What is one amplification technique?
As PCR progresses, the DNA generated is itself
used as what?
How is this process beneficial?
How are a wide variety of tests performed?
What are the methods that PCR applications
employ a heat-stable DNA polymerase, such as
Taq polymerase used?
What are the steps in the Polymerase
Chain Reaction Test (PCR)?
1) Transcription mediated amplification
(TMA)
2) Ligase chain reaction (LCR)
3) Strand displacement amplification
(SDA)
4) Loop-Mediated Amplification (LAMP)
5) Whole genome, trascriptome, or exome
amplification
6) Branched-Chain signal amplification
Signal and probe amplification
Polymerase chain reaction (PRC)
Thermal cycling
Repeated cycles of heating and cooling is used
to provide a reaction of DNA melting and
enzymatic replication of DNA
Primers
DNA polymerase
Primers and DNA polymerase
Polymerase Chain Reaction (PCR)
a template for replication
setting in motion a chain reaction in which the
DNA template is exponentially amplified.
PCR can be extensively modified to perform a
wide array of genetic manipulations.
This DNA polymerase enzymatically assembles
a new DNA strand from DNA building-blocks,
the nucleotides, by using single-stranded DNA
as a template and DNA oligonucleotides (also
called DNA primers), which are required for
initiation of DNA synthesis.
The vast majority of PCR methods use thermal
cycling, i.e., alternately heating and cooling the
PCR sample through a defined series of
temperature steps
•
Polymerase Chain Reaction (PCR)
• In the first step, the two
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Chem PPT Flashcards, Unit 5
How is transcription-mediated amplification
advantegous?
What is Ligase Chain Reaction (LCR)?
When is Strand Displacement Amplification
(SDA) used?
What is Loop-Mediated Amplification
(LAMP)?
This method is one of the additional
amplification methods?
This amplification method is useful to enrich
and amplify before detection or sequencing?
This method is one of the additional
amplification methods?
The following is characteristic of what
amplification method?
Creates branched DNA by hybridizing the
target nucleic acid producing multiple copies of
signal generating enzymes that act on a
chemiluminescent substrate to produce light.
Name two amplification techniques which
belong to Signal and Probe Amplification?
The following are characteristics of what
amplification method?
strands of the DNA double
helix are physically
separated at a high
temperature in a process
called DNA melting.
• In the second step, the
temperature is lowered and
the two DNA strands
become templates for DNA
polymerase to selectively
amplify the target DNA. The
selectivity of PCR results
from the use of primers that
are complementary to the
DNA region targeted for
amplification under specific
thermal cycling conditions.
https://youtu.be/iQsu3Kz9NYo
Particularly advantageous when the target is a
viral RNA from patients carrying the HIV or
HCV in blood bank nucleic acid testing.
A ligase replaces the polymerase of PCR,
resulting in exponential ligation during
temperature cycling.
Strand displacement is used instead of thermal
denaturation, allowing isothermal amplification.
Also uses strand displacement and is isothermal,
producing a myriad of looped structures of
different sizes.
Whole genome, Transcriptome, or Exome
Amplification
Whole genome, Transcriptome, or Exome
Amplification
Branched-Chain Signal Amplification
Branched-Chain Signal Amplification
Serial invasive signal amplification
Rolling Circle Amplification (RCA)
Serial invasive signal amplification
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Chem PPT Flashcards, Unit 5
A signal enhancing technique that combines
two invasive signal amplification reactions in
cities in a single tube format.
The cleaved 5' arm from the target-specific
primarily reaction is used to drive a secondary
invasive reaction.
The following are characteristics of what
amplification method?
A probe amplification method where, in the
presence of template, a linear probe is ligated to
form a circle that is replicated continuously by a
polymerase and one or more primers.
What are two types of detection techniques?
What is sequence speficic labels?
What is one type of discrimination technique?
What type of DNA is used for electrophoresis?
Where would DNA/RNA migrate on the gel?
What is the common polymeric support media
used in electrophoresis?
What is PCR product length frequently used to
assess?
What is PCR product length commonly used in
the diagnosis of?
What does RFLP stand for?
What happens to a DNA sample in RFLP?
What is done with the resulting restriction
fragments in RFLP?
What does CSGE stand for?
What is CSGE?
What is Denaturing gradient gel electrophoresis
(DGGE)?
What are the denaturing conditions used for
Rolling Circle Amplification (RCA)
Generic measurement and visualization and
sequence specific labels.
They are labels used to discriminate between
different nucleic acid sequences, using
radioactive probe labels (biotin or digoxigenin).
Electrophoresis
Most commonly used for separating molecules
of DNA and RNA.
Both DNA and RNA are negatively charged and
will migrate toward the positively charged
electrode when an electric field is present within
an appropriately buffered solution.
Agarose gels and polyacrylamide
The quality and specificity of PCR
amplification.
Inherited diseases and in identity assessment
Restriction Fragment Length Polymorphism
It is broken into pieces and (digested) by
restriction enzymes
They are separated according to their lengths by
gel electrophoresis.
Conformation-sensitive gel electrophoresis
A type of electrophoretic mutation scanning in
which a segment of DNA is a screened for
mismatch pairing between normal and mutated
base pairs.
DGGE is electrophoretic method for separating
DNA fragments according to their mobilities
under increasing denaturing conditions.
Increasing formamide or urea concentrations.
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Chem PPT Flashcards, Unit 5
DGGE?
What is Temperature-gradient gel
electrophoresis (TGGE)?
What does Single-stranded conformational
polymorphism (SSCP) determine?
TGGE is a form of electrophoresis that uses
temperature to denature the sample as it moves
across an acrylamide gel.
Abnormal migration patterns of single stranded
DNA.
What is Dideoxy-Termination Sequencing
(DNA Sequencing) also known as?
Sanger Sequencing.
What is Dideoxy-Termination Sequencing
(DNA Sequencing)?
It is a method of DNA sequencing based on the
selective incorporation of chain terminating
dideoxynucleotides by DNA polymerase during
in vitro DNA replication.
Commonly used Electrophoresis-based
techniques.
Provides physical separation of individual
Nucleic Acid species based on molecular
weight and shape.
 Also known as single-base primer
extension (SBE) assay.
An assay performed by annealing a primer to
ssDNA immediately adjacent to the single base
variant.
A technique for determining the presence or
absence of a specific nucleotide pair within a
target gene, often indicating whether the gene is
wild type (normal) or mutant (defective).
A variation of PCR that permits multiple targets
to be amplified with only a single primer pair.
Mass spectrometry
What is Discrimination Techniques?
What is Electrophoresis?
What is Single Nucleotide Extension (SNE)?
What is Oligonucleotide Ligation Assay
(OLA)?
What is Multiplex Ligation-Dependent Probe
Amplification (MPLA)?
What is the laboratory equipment used in
Discrimination Techniques?
What is Pyrosequencing in Discrimination
Techniques?
How does the Discrimination Techniques
function?
What is Discrimination Techniques?
What is Hybridization assays?
How does a specific double stranded hybrids
A method of DNA sequencing based on the
“sequencing by synthesis” principle that relies on the
detection of pyrophosphate (PPi) release on
nucleotide
incorporation
High-throughput sequencing with amplification.
High-throughput sequencing without
amplification
Discrimination by mass or sequence without
electrophoresis
Hybridization is the annealing or pairing of two
DNA strands
Hybridization assays are based on the ability of
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Chem PPT Flashcards, Unit 5
synthesized?
What is Hybridization thermodynamics in
Discrimination Techniques?
How does the Hybridization thermodynamics
been used in Discrimination Techniques?
What is hybridization kinetics rate?
What is the probe hybridization to a given
fraction of the target is proportional to?
What influenced hybridization rates?
What is definition of probe?
What is the probe used for?
What are the probe’s types?
What are some examples of hybridization
assays?
What is the real-time polymerase chain
reaction?
When does real-time polymerase chain collect
data elements?
What kind of instrumentation and technique
does real-time polymerase chain reaction use?
What does the data obtained provide?
What is Real-time Polymerase Chain Reaction?
What does the real-time polymerase Chain
Reaction do?
Can the Real-time Polymerase Chain Reaction
be used quantitatively or qualitatively?
single-stranded nucleic acids to form specific
double-stranded hybrids.
Temperature is the denaturant most easily
manipulated.
The melting temperature (Tm) of a DNA
molecule is defined as the temperature at which
50% of the DNA molecules dissociate or "melt”
from a double-strand configuration to a singlestrand configuration
Is 2nd order, being proportional to the
concentrations of both hybridizing strands
The probe concentration.
- Temperature
Ionic strength.
Is a nucleic acid used to identify a target by
hybridization
To reveal the identity or abundance of a target
- Cloned probes
- PCR-generated probes
- Oligonucleotide probes
Solid-phase hybridization that include dot-blot
and line-probe assays, arrays, in situ
hydridization, southern and northern blotting.
Solution-phase hybridization assays include
real-time PCR, PCR melting analysis, single
molecule visualization, as well as other classical
techniques.
The formation or dissociation of the probe
target duplex (or product duplex) is monitored
in real time.
During the nucleic acid amplification step rather
than at the end of it.
Fluorescent dyes or probes and uses instruments
that record fluorescence during thermal cycling.
Information on the identity and quantity of the
nucleic acid sample.
It is a laboratory technique of molecular biology
based on the polymerase chain reaction (PCR).
It monitors the amplification of a targeted DNA
molecule during the PCR, i.e. in real-time, and
not at its end, as in conventional PCR.
BothReal-time PCR can be used
quantitatively (Quantitative real-time PCR),
semi-quantitatively, i.e. above/below a certain
amount of DNA molecules (Semi quantitative
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Chem PPT Flashcards, Unit 5
What are Two common methods for the
detection of PCR products in real-time PCR?
(1) non-specific fluorescent dyes that intercalate
with any double-stranded DNA
(2) sequence-specific DNA probes consisting of
oligonucleotides that are labelled with a
fluorescent reporter which permits detection
only after hybridization of the probe with its
complementary sequence.
qPCR measures ?
Summary of Real-time PCR (Quantitation)
Name some normal PCR reaction ?
What are three types of qPCR ?
What is the power of PCR?
What is the purpose of PCR?
Detecting PCR
What are Primers ?
What is PCR Incubation time
Define Detection.
Define Quantification.
Define Genome.
real-time PCR) or qualitatively (Qualitative
real-time PCR).
(1) non-specific fluorescent dyes that intercalate
with any double-stranded DNA
(2) sequence-specific DNA probes consisting of
oligonucleotides that are labelled with a
fluorescent reporter which permits detection
only after hybridization of the probe with its
complementary sequence.
measures DNA amplification; Fluorescent-base
Faster, more precise & reproducible › Detects
amplifiable DNA
› Human-specific
Highly
suitable for automation
› Expensive start-up
instrumentation
Denaturation, Annealing, Extension
1. Probe sequences that fluorescence upon
hydrolysis or hybridization- TaqMan (FRET)
2. Fluorescent hairpins- Molecular Beacons
(FRET)
3. Intercalating dyes- SYBR Green,
no multiplexing
Gives us an easy to use tool for targeting a
specific gene or DNA region of interest
amongst the thousands of genes founds in an
organism's genome.
Qualitative detection of the gene or region of
interest or relative quantification of the target
DNA.
Detected via methods of gel electrophoresis or
using flourescent probes during real time PCR.
Designed to targetthe DNA region of interest;
two primers are needed upstream and
downstream; provide specificity for the region
of interest.
Varies depending of the efficiency of the heat
transfer of the thermocycler and composition of
reaction tubes and size of target.
A fluorescent signal that increases during PCR and
follows one of the expected curve shapes suggests
that the specific target is present and was amplified.
Real-time PCR offers a convenient and systematic
approach to quantify by monitoring the amount of
product produced each cycle.
A genome is an organism’s complete set of
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Chem PPT Flashcards, Unit 5
Which content are made The human genome?
True of False? The human genome contains
3.08 billion base pairs in 23 chromosomes (46244 million base pairs per chromosomes).
How many genes do human beings have?
Fill in the Blank: Considered less complex
done bacterial ?.
True or False? Because viruses use the host's
cellular machinery, they do not need as many
genes as bacteria do.
The viral genome consist of either 1?or 2?, and
the nucleic acid may be single-stranded or
double-stranded, linear or circular with one or
multiple fragments and/or copies per viral
particle.
Common sequence variants in viruses include
what?
The most common sequence variations are
single-base change is also known as what?
What are the two types of variants?
Which variants cover more of the genomes?
CNVs or SNVs?
What are 3 ways CNV's may be duplicated in?
Since CNV regions exists in every
chromosome, what percentage is involve in the
human genome
Most CNV's are (a) and (b), similar to
single nucleotide polymorphism (SNPs)
Sequence alterations that are known to cause
disease are often called?
What percent of known disease causing variants
involve only a single-base?
What percentage of mutation is small insertions
or deletions?
What percentage of mutations are complex
DNA, including all of its genes.
The human genome is the complete set of
nucleic acid sequence for humans (Homo
sapiens), encoded as DNA within the 23
chromosome pairs in cell nuclei and in a small
DNA molecule found within individual
mitochondria.
True
20,0000-25,000 genes
genomes
True
1. DNA
RNA
single-base changes, insertions and deletions.
Single nucleotide variants (SNVs)
Copy number variants (CNVs)
Single nucleotide variants (SNVs)
CNVs
1. Tandem
2. Complex gains
Losses of homologous sequences at multiple
sites of the genome
5 - 12%
a. Inherited
Biallelic
Mutations or disease causing variants
68%
24%
8%
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Chem PPT Flashcards, Unit 5
structural variations?
What are some of the variations That Cause
Human Disease ?
Explain how does a single nucleotide variants
cause a human disease
Explain how does a small insertions and
Deletions cause a human disease?
List some of the Structural variants
Describe the common characteristics of the
bacterial genome.
What percentage, of bacterial DNA, codes for
protein?
What are plasmids?
Why are plasmids important in molecular
diagnosis of bacterial infections?
Single nucleotide variants, Small insertions and
Deletions, or Structural variants
A Single nucleotide variants is any change in
the nucleic acid that involves only a single
nucleotide, including base changes, and singlebase deletions/insertions.
A Small insertions and Deletions is an insertion
refers to the presence of extra bases, whereas
deletion implies the absence of certain bases in
comparison with a reference sequence.
Insertions and deletions often cause a shift of
the codon reading frame, resulting in altered
amino acid sequence downstream of the
variation - commonly followed by chain
termination from a nonsense codon.
Duplication or deletion of entire exons or genes,
chromosomal translocations, inversions, SSR
expansions (increased number of trinucleotide
repeats), gene rearrangements, complex
polymorphic loci related to health and disease,
and Copy number variants (CNVs)
Common bacteria have only one chromosome,
usually a circular DNA double helix of 4
million to 5 million base pairs
90%
Bacterial accessory genes in smaller circles of
double-stranded DNA
because they often encode pathogenic factors
and antibiotic resistance.
In what way can the bacterial repertoire of DNA DNA can be altered by gain or loss of plasmids,
be altered?
single-base changes, small insertions and
deletions and larger segmental rearrangements.
These genomes are considered less complex
Viral genomes
than bacterial genomes.
What is the difference between bacterial and
Because viruses use the host's cellular
viral genomes with regards to the number of
machinery, they do not need as many genes as
genes needed to infect host?
bacteria do
What common sequence variants occur in
single-base changes, insertions and deletions
viruses?
Mycological organisms have simple genomes.
False
True or False
Can fungi genomes be haploid or diploid? Yes
Yes
or No
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Chem PPT Flashcards, Unit 5
Bacteria and viral genes do not share with fungi
the _________.
Rate these organisms’ complexity in general
terms.
1. Fungi
2. Bacteria
3. Virus
A. 3,2,1
B. 1,2,3
C. 1,3,2
Introns
B
39