Week 2 Flashcards

1
Q

By which day does blastocyst implant into wall of uterus?

A

6

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2
Q

Describe Cullen’s sign

A

Bruising in subcutaneous fat tissue around umbilicus - sign of ruptured extrauterine pregnancy

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3
Q

Where is the pregnancy located at
a - 12 weeks
b- 16 weeks
c- 20 weeks

A

up to pubic bone
halfway btwn pubic bone and belly button
belly button

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4
Q

Gestational sac should be seen at 4-5 weeks or if bHCG is over _____

A

2500

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5
Q

What is the cut off for perinatal loss?

A

28 d after birth

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6
Q

What is the cut off that differentiates between spontaneous ab and stillbirth?

A

loss over 20 weeks

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7
Q

Describe Chadwick’s sign

A

bluish/purplish exam in normal pregnancy cervix

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8
Q

What is friable cervix?

A

Bleeding with sexual intercourse

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9
Q

Name 5 important tests for pregnant women

A

1) hCG
2) progesterone
3) blood type and Rh
4) CBC (white count, h&h)
5) prenatal panel

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10
Q

Where are primordial germ cells located at

a) week 2
b) week 3
c) week 4
d) week 5

A

a) epiblast
b) wall of yolk sac
c) migrate to developing gonads
d) arrive in gonads

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11
Q

________, bizarre growths that contain different tissues, form when misdirected PGC’s do not die

A

Teratomas

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12
Q

True or false - Oogonia never undergo mitosis

A

false, only undergo mitosis during embryonic development

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13
Q

What makes chromosomes homologous?

A

Have individual alleles of SAME genes located at SAME locus

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14
Q

True or false - bio selection of an allele for one trait has NOTHING to do with selection of an allele for another trait

A

TRUE DAT

Independent assortment :)

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15
Q

Primary oocytes remain in _________ and do not finish meiotic division before puberty

A

Prophase I

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16
Q

Secondary oocytes are arrested in _________ until sperm penetrates

A

Metaphase II

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17
Q

Define spermiogenesis

A

Spermiogenesis - the generation of sperm ( haploid cells differentiate towards mature sperm, acquire tail and an acrosome). Spermatids –> Spermatozoa

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18
Q

_________, the last phase of spermiogenesis, is created after spermatid disengages excess cytoplasm and is released into the semniferous tubule

A

Spermatozoa

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19
Q

______________ stimulates oocyte meiosis, follicle ovulation, and progresterone secretion.

A

Luteinizing hormone

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20
Q

_________ stimulates uterine proliferative phase, thins cervical mucus, stimulates pituitary to secrete LH

A

Estrogen

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21
Q

_________ secreted by luteal cells stimulates uterine secretory phase

A

Progesterone

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22
Q

Describe the difference between positive predictive value and sensitivity

A

sensitivity = true positive / total # of pts with condition

PPV = true positive / # of pts who test positive

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23
Q

Describe a Robertsonian Translocation

A

Short arm of one acrocentric chormosome is exchanged with long arm of another creating a large chromosome (two long arms) and a fragment that is often lost - 5% of DS

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24
Q

The larger the nuchal translucency, the more likely the baby will have _____ or ______ syndrome

A

cardiac or chromsomal

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25
Q

What are characteristics of trisomy 18?

A

clenched fist, overriding index finger, VSD, rock bottom feet, choroid plexus cyst. 90% die within first 6 months.

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26
Q

In second trimester screen analytes (hCG, inhibin, estriol, AFP)

1) DS
2) trisomy 18

A

1) high HCG and high inhibin

2) all low

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27
Q

What are characteristics of trisomy 13?

A

polydactyly, cleft lip, cleft palate, midline defects (heart, brain, abd), most die within 4 years, 60% are miscarried

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28
Q

Describe the characteristics of Turner Syndrome

A

XO; short stature; short neck;infertility; cardiac, endocrine and kidney abnormalities

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29
Q

During the ______________ phase of the ovarian cycle, granulosa cells proliferate and theca cells develop with LH receptors

A

pre-antral follicular

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30
Q

Pre-antral and antral follicular phases- major difference

A

pre-antral is hormonal independent, and antral is hormonal dependent

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31
Q

The LH surge towards end of first half of ovarian cycle, induces expression of _____________ which activates the primary oocyte.

A

maturation promoting factor

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32
Q

Differentiate between primary, second, and tertiary follicles

A

1) metaphase I
2) granulosa proliferate, thecal cells become visible
3) antrum forms

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33
Q

Class 5 antral follicles that do not become dominant undergo ________

A

artesia

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34
Q

Once the secondary oocyte is penetrated by sperm, it completes meiosis II and produces _________ and __________

A

one large ovum, 2nd polar body

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35
Q

The LH surge also stimulates two other things, what are they?

A

Causes follicular rupture and oocyte extrusion; causes corpus luteum to make progresterone

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36
Q

LH and FSH both stimulate estrogen production from follicle. How?

A

LH stimulates thecal cells to make androgen from cholesterol

FSH stimulates granulosa cells to make aromatase –> converts androgen to estrogen

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37
Q

After oocyte is captured by sweeping movement of ______________ of oviduct, fertilization occurs at _______

A

fimbrae of oviduct, ampula

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38
Q

Differentiate between the corpus luteums fate when it is fertilized vs not fertilized

A

fertilized - hCG from ST allows CL to grow –> make progesterone x4 months
not fertilized - cells apoptose –> corpus albicans –> progesterone secretion is lost –> triggers menstrual bleeding

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39
Q

Describe the three phases of fertilization. Where are the acrosomal enzymes released? ( acrosin and hyalurandiase)

A

1) penetration of the corona radiata
2) penetratation of the zona pellucida
3) oocyte and sperm fuse

Acrosomal enzymes released to penetrate of zona pellucida and to promote lyosomal enzyme release by oocytes (slow block of polyspermy)

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40
Q

Differentiate between slow block and fast block of polyspermy

A

fast block - depolarization of ZP (no more sperm can attach)

slow block - ZP permeability changes (no more sperm can pass)

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41
Q

During embryo transport, there is a delay at the _____________

A

utero tubal junction

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42
Q

Egg enter uterine cavity as _________ before it is implanted as a blastocyst

A

morula - day 3 - 16 cell inner cell mass

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43
Q

Describe the steps in blastocyst formation

A

Zona pellucida degenerates
Inner cell mass forms (embryoblast)
Outer cell mass forms (trophoblast)

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44
Q

Implantation (normally in the posterior superior uterine wall) occurs when the trophoplast cells invade the ________ on day 6

A

uterine epithelium

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45
Q

After menstrual phase, the ___________ phase begins, which is induced by estrogen. An LH surge at day 14 causes ovulation.

A

proliferative (follicular) phase

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46
Q

After ovulation, the ________ phase begins, which is induced by progesterone.

A

progestational (secretory) phase

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47
Q

What remains after the menstrual phase?

A

bottom layer of the endometrium

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48
Q

What are the layers of the endometrium? (3)

A

compact, spongy, basal (bottom)

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49
Q

There is a delay at the ___________ junction where fertilization occurs

A

ampullary isthmic junction

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50
Q

Where does implantation normally occur? (part of uterine wall)

A

posterior superior

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51
Q

(week 2) What are the two functions of the synctiotrophoblast as part of outer cell mass?

A

1) secretes hCG (initiates decidual rxn to take in glycogen and nutrients)
2) helps implant embryo

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52
Q

(week 2) By which day is there complete implantation of the embryo into the endometrium and covering of implantation location by a fibrin plug?

A

day 10

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53
Q

(week 2) Which cells surround the amniotic cavity? Which surround the blastocystic cavity (which becomes the primary yolk sac?

A

epiblasts, hypoblasts

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54
Q

(week 2) The synchtiotrophoblast layer secretes hCG to send signal to ovary to keep making _____________, which maintains the secretory portion of the uterine cycle

A

progesterone

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55
Q

(week 2) What occurs to hCG levels in ectopic pregnancy and why?

A

Start out high but uterine tube cannot support placenta so will taper off

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56
Q

hCG peaks at _____ weeks and then drops off until ___ weeks

A

10, 24

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57
Q

(week 2) Describe the differences between the two layers of the extraembryonic mesoderm

A

Sphlancnic mesoderm surrounds yolk sac

Somatic mesoderm lines cytotrophoblast and becomes connecting stalk

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58
Q

(week 2) The _____________ forms between the 2nd yolk sac and cytotrophoblast

A

chorionic cavity

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59
Q

(week 2) What are the two functions of the secondary yolk sac?

A

hematopoiesis

primordial germ cells

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60
Q

(week 2) Hypoblasts, as part of the primary yolk sac, are referred to as

A

Heuser’s membrane

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61
Q

(week 2) What three types of cells make up the chorion

A

1) synctiotrophoblast
2) cytotrophoblast
3) extraembryonic somatic mesoderm

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62
Q

(week 2) Maternal blood lacunae form in the endometrium by invasion of the synctiotrophoblast and chorionic villi establishing the _________________

A

early placenta

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63
Q

(week 2) What are the two components of placenta generated in the second week of pregnancy?

A

1) endometrium

2) chorion

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64
Q

The appearance of the __________ marks the beginning of the third week and of gastrulation

A

primitive streak

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65
Q

The primitive streak establishes the position polarity of the embryo. (3)

A

dorsal ventral
right left
cranial caudal

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66
Q

The ______ and ______ membranes on the primitive streak represent two areas where epiblasts and hypoblasts are fused.

A

buccopharyngeal

cloacal

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67
Q

What are the three layers (all derived from epiblast) are formed during gastrulation

A

ectoderm, mesoderm, and endoderm

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68
Q

At the end of the fourth week, the primitive streak disappears. If it does not, what does it form?

A

Sacrococcygeal teratoma - most common tumor in new born

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69
Q

At 15 days, invagination of epiblast cells occurs, which displaces the ________ to create the definitive _______ which once established allows inwardly moving epiblast cells to create _____________

A

hypoblast cells, endoderm, mesoderm

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70
Q

The _________ layer is responsible for collagen, cartilage, muscle, bone, kidney, blood and spleen

A

mesoderm

71
Q

The __________ layer is responsible for the neural crest cells (involved in cranial bone, nerve, and adrenal medulla etc) the pituitary, the brain, and more superficial organs

A

ectoderm

72
Q

The _______ layer is responsible for sex cells, lung, thymus, liver,, the thyroid and the gut

A

Endoderm

73
Q

In 3rd week, ______ development from paraxial mesoderm begins (cells migrate to 2nd most cranial part of primitive node)

A

somite development

74
Q

By the third week, the formation of the _____ which stimulates neurulation is complete

A

notochord

75
Q

Cells that migrate to the most cranial part of the primitive node form the

A

notochord

76
Q

Cells that igrate to the most caudal part of the primitive node form the ___ which is responsible for formation of the ______

A

extraembryonic mesoderm, chorion

77
Q

Cells that migrate to mid point of primitive node (between cranial and caudal) form the ____ which is responsible for the _____

A

intermediate mesoderm, urogenital system

78
Q

Cells that migrate to second most caudal part of the primitive node form the _____ which is responsible for the _____

A

lateral plate, body wall

79
Q

The _________ formed by endoderm sets the limit for cranial migration of notochordal cells and induces formation of the forebrain

A

prechordal plate

80
Q

The hollow _____________ grows granially from walls of primitive pit

A

notochord process

81
Q

The ventral wall of notochordal process fuses with the endoderm to form the _____________

A

notochordal plate

82
Q

What are the three parts of the primitive streak?

A

groove, pit, node

83
Q

Which of these would be indicated by low AFP levels

a) fetal demise
b) normal pregnancy
c) molar pregnancy
d) trisomy
e) all of the above

A

e

84
Q

Which of these would be indicated by high AFP levels

a) neural tube defects
b) twins
c) abd wall defect
d) low birth weight
e) all of the above

A

e

85
Q

Low/high AFP levels may indicate an error in ______ or fetal demise

A

dating

86
Q

Karyotyping, during which cells are arrested in metaphase and stained with Geimsa stain, gives ___________ information about chromosomes

A

structural - detects large deletions, inversions, duplications and translocations

87
Q

Locus specific, aiphoid/centromeric repeat, and chromosome specific are the three types of probes used in _________

A

FISH!

88
Q

In FISH analysis, nuclei are labeled to visualize ________ and interphase nuclear are labeled to determine ____ which can be used to determine degree of mosaicism

A

chromosome structure, number

89
Q

What is a con of microarray analysis and cell free DNA?

A

will detect only gain or loss, not balanced rearrangement

90
Q

Which of the following is NOT an example of a balanced chromosomal abnormality?

a) inversions
b) insertions
c) duplications
d) isochromosomes

A

c- types are direct tandem and inverted

91
Q

TRUE OR FALSE: Unbalanced and balanced abnormalities in chromosomes are reproductively lethal

A

FALSE, unbalanced only, however balanced mutations can lead to unbalanced inheritance

92
Q

_________ is the primary hematopoietic tissue of the myeloid tissues whereas __________ is the primary hematopoietic tissue of the lymphoid tissues

A

bone marrow, thymus

93
Q

Name the four most immature types of cells that are going to be committed

A

myeloblasts, monoblasts, pronormoblasts, megakaryoblasts

94
Q

Hemapoietic stem cells arise ____________ (time frame) after embryological development in yolk sac

A

3-6 weeks

95
Q

After 6 to 12 weeks, HSC’s migrate to the ________ which is the chief site of fetal blood cell formation

A

liver

96
Q

After fourth months, HSC’s migrate to the bone marrow where they stay until puberty after which hematopoiesis is restricted to the _______________

A

axial skeleton

97
Q

How does hemolytic disease of the newborn cause massive edema?

A

When baby’s blood cells are destroyed by mother, liver is overwhelmed by demand for hematopoiesis –> does not make albumin

98
Q

In ________, the nucleus cannot synthesize DNA for daughter cells, therefore the cytoplasm in cells is still blue due to RNAs and the cells contain hgb

A

folate deficiency

99
Q

In _____________, too many lobes are seen in the cells

A

B12 deficiency

100
Q

Which of Freud’s aspects of personality are the original reserve of all psychic energy (drives and impulses based on most primitive needs)?

a) id
b) ego
c) superego
d) Freud did not believe in such things

A

a)

101
Q

In the latency period of sexual development, sexual strivings are suppressed vby the:

a) id
b) ego
c) superego
d) Freud did not believe in such things

A

c)

102
Q

According to Erikson, basic trust vs mistrust is established within ____ to ____ years of age and failure can lead to seeing relationships as disappointing or too dangerous to rely on

A

0 to 1

103
Q

According to Erikson, autonomy vs self doubt is established within ____ to ____ years of age

A

1 to 3

104
Q

According to Erikson, initiative vs guilt is established within ____ to ____ years of age

A

3 to 6

105
Q

Why does erythropoietin level rise with 2ndary polycythemia but not primary?

A

in 2ndary polycythemia, the tumor secretes EPO

106
Q

Reticuloycte maturation is inversely related to _____________ due to accelerated release from the marrow

A

hct%

107
Q

Megakaryocytes produce what types of cells?

A

platelets

108
Q

________ occurs in response to an infection when immature neutrophils are dumped into the blood

A

left shift / bandemia

109
Q

Which of the following myeloid trophic factors triggers IL-1 production

a) granulocyte/macrophage CSF
b) granulocyte CSF
c) neupogen
d) monocyte/macrophage CSF

A

d

110
Q

In neutrophil development, a ________ is indicated by primary granules whereas a _________ is indicated by secondary granules. Myeloblasts never contain granules.

A

promyelocyte, myelocyte

111
Q
Describe the outcomes of the following lymphoid trophic factors:
IL-1
IL-2
IL-3
IL-4
IL-5
A
fever
T-cell development
bone marrow
IgE, b-cells
IgA, eosinophils
112
Q

Which of the following is charged, polar, and contains an OH group?

a) glucose
b) glycerol
c) glycine
d) lactate
e) aspartate

A

D
glucose and glycerol are contain OH group
glycine and aspartate are charged

113
Q

Why do lipids associate in H2O?

A

The amount of water order decreases when lipids come together, increasing entropy, decreasing G

114
Q

_________ acts as the buffer of blood. it is a weak acid that loses protons to become ________

A

carbonic acid, bicarbonate

115
Q

When are respiratory compensatory mechanisms used versus metabolic compensatory?

A

respiratory - when caused by changes in PcO2

metabolic - when caused by changes in bicarbonate

116
Q

Define type of R group and pKA for the following

a) Aspartate and Glutamate

b) Lysine and Arginine

A

a) 4.5, positively charged

b) 10.5, negatively charged

117
Q

What is the difference between a nucleotide and a nucleoside?

A

Nucleoside has no phosphate group, nucleotides have 1-3

118
Q

TRUE OR FALSE: Recessive loss of function mutations result in loss of activity of half of proteins

A

true

119
Q

For dominant disorders, disease frequency is equal to

A

heterozygous frequence

120
Q

For X-linked dominant disorders, the frequency of affected females is ____ the frequency of affected males

A

2X

121
Q

What is similar about both viral and bacteria genomes?

A

No introns

122
Q

The human genome is 30% genes (28.5% are introns or noncoding) and 45% _________

A

transposons - small piece of DNA that inserts itself into another place in the genome

123
Q

Mutations in LINE and SINE (transposons) have been linked to several disorders including hemophilia, muscular dystrophy and breast cancer. In SINES, ____ repeats are the most common types of mutations.

A

ALU

124
Q

_____ describes stretches of conserved gene order on chromosomes

A

synteny

125
Q

What are the four mechanisms that create new genes?

A

intragenic mutations, gene duplication (globin, IgG chains), DNA segment & shuffling, horizontal transfer

126
Q

________ are tandem repeat sequences that display length variations

A

simple sequence length polymorphisms (SSLPs)

microsatelites and minisatellites also tandem repeats

127
Q

What are absolutely required for DNA replication (4)

A

a) primer
b) free 3’ OH
c) DNA polymerase
d) source of nucleotides

128
Q

____________ creates double strand breaks to relieve supercoiling induced by ATP-driven DNA helicase and prevent DNA tangling during replication

A

DNA topoisomerase

129
Q

Acyclovir is a _____________ inhibitor used in treatment of oral herpes. It gets converted to acyclo-GTP which gets incorporated in DNA and induces

A

DNA polymerase, chain termination

130
Q

Human ____________ is required for gene expression and DNA replication and is a target of inhibitory drugs

A

human type II topoisomerase

131
Q

X-rays and O radicals cause single strand breaks and uracil formation and can be corrected by

a) base excision repair
b) nucleotide excision repair
c) recombination repair
d) mismatch repair

A

a

132
Q

IR, UV light and X-rays cause double strand breaks that can be corrected by

a) base excision repair
b) nucleotide excision repair
c) recombination repair
d) mismatch repair

A

c

133
Q

________ of cytosine produces uracil

A

Deamination

134
Q

Which of the following repairs DNA injuries caused by UV radiation or carcinogenic substances? (ex thymine-thymine binding)

a) base excision repair
b) nucleotide excision repair
c) recombination repair
d) mismatch repair

A

b

135
Q

In ___________, MutL and MutS detect issue and MutH recognizes methyl groups on template DNA strand in order to decide which copy to cut

A

mismatch repair

136
Q

Xeroderma pigmentosum is caused by inherited defects in which DNA repair mechanism?

A

nucleotide excision repair

137
Q

In homologous recombination, a ds break can be fixed after strand invasion occurs and produces a ________________ which depending on the direction can induce cross over

A

double holliday junction

138
Q

In site specific recombination, movement of __________ occurs between non-homologous sites

A

transposons

139
Q

Which of the following is not a primary structure peptide?

a) vasopression
b) glucagon
c) angiotensin
d) all of the above are

A

d

140
Q

What are the two classes of molecular chaperones?

A

heat shock proteins and chaperonins

141
Q

What occurs to entropy and free energy of the protein in the free energy funnel model of protein folding

A

both decrease

142
Q

Which of the following diseases is not an amyloidosis?

a) cystic fibrosis
b) parkinson’s
c) type II DM
d) beta thalessemia
e) cruetzfeldt-jacob

A

d

143
Q

What change in single AA residue causes sickle cell anemia?

A

glutamine –> valine

144
Q

If the pH is less than the pKa of the molecule, then the _________ form will be present, and if the pH is higher than the pKa, the ________ form will be present

A

protonated, deprotonated

145
Q

Gel exclusion chromatography separates molecules by

a) charge
b) size
c) affinity to ligand
d) charge and size

A
b - SDS page also separates by size
charge is ion exchange
affinity to ligand is affinity
charge and size is native 1D page
2 dimensional SDS page separates by PI and size
146
Q

What is the difference between cosubstrate and prosthetic group

A

Prosthetic groups associate permanently with active site of NZ, cosubstrates are temporary

147
Q

Adenylate kinase is involved in converting AMP and ATP to

A

two ADPs

148
Q

Which coenzymes is NOT a carrier of functional groups?

a) Coenzyme A
b) NAD
c) NADP
d) FAD
e) FMN

A

a) carries acyl groups, SH groups form thioester bonds with organic acids

149
Q

S-adenosyl methionine is a ________ donor for most bio ______

A

methyl group, methylations

150
Q

_________ is the structural unit of a chromosome, consisting of a length of DNA coiled around a core of histones (which require 8 proteins)

A

nucleosome

151
Q

Chromatin’s dynamic structure allows swapping of _______ which is carried out by ATP-dependent chromatin remodeling complex

A

histone proteins and nucleosomes

152
Q

______ proteins relax chromosomes and activate transcription while ______ removes acetyl groups and causes chromatin to repack. Which is a target for anticancer treatment?

A

HAT, HDAC

HDAC!

153
Q

Which small RNA subtype is involved in post transcriptional gene silencing?

a) snRNA
b) snoRNA
c) miRNA
d) scRNA

A

c

154
Q

Which RNA polymerase transcribes

a) protein coding (mRNA ) and snRNA genes
b) rRNA genes
c) tRNA genes

A

a) II
b) I
c) III

155
Q

_______ is a cyclic peptide toxin derived form mushrooms that strongly inhibits RNA polymerase II and weakly inhibits RNA polymerase III

A

alpha-amanitin

156
Q

_______ inhibits mtRNA polymerase, but does not affect other eukayrote RNA polymerases

A

Rifampin

157
Q

Which of the following is not involved in opening and unwinding DNA helix?

a) helicase
b) endonuclease
c) gyrase
d) topoisomerase

A

b

158
Q

What is the order for transcription factors of RNA polymerase II?

A

D - recognizes Tata box
B - recgonizes BRE, positions RNA polymerase at start of transcription
F - stabilizes RNA polymerase interaction
E - attracts and regulates H
H - unwinds DNA at transcription start, releases RNA polymerase from promoter

159
Q

_______ proteins, when bound to corresponding region, can cause DNA strand to loop back onto where polymerase is and turn expression on

A

Enhancer

160
Q

While RNA is being made, 5’ cap, 3’ tail and intron splicing occur. 5’ cap involves the addition of a 5’ to 5’ ______________ that includes 7-methylguanosin

A

triphosphate bridge

161
Q

___ is present at 5’ donor splice site in intron while ___ is present at 3’ acceptor splice site in intron

A

GU, AG

162
Q

The premRNA splicing pathway involves the cut 5’ end of the intron being covalently linked to a the adenine on the 3’ end, resulting a loop structure called a ____ that is later released

A

lariat

163
Q

Exon skipping, mutually excluse exons, alternative 5’ donor site, alternative acceptor site, and intron retention are all examples of alternative splicing that lead to __________

A

exon shuffling

164
Q

A ____________ is a site where a sequence rsembles an authentic splice site and may be selected during aberrant splicing

A

cryptic splice site

165
Q

_____ proteins are involved in selecting splice sites

A

SR, serine/arginine

166
Q

Abnormal processing of B-globin can lead to Beta-thalessemia in all but which of the following?

a) formation of three exons
b) activation of cryptic splice sites
c) exon skipping
d) new exons incorporated

A

a) that’s normal

167
Q

____________ binds to poly a tail and interact with 5’ by making a circular mRNA

A

poly a binding protein

168
Q

Which of the following is NOT a functional domain of transcription factors?

a) dimerization domain
b) activation domain
c) repression domain
d) DNA binding domain

A

c

169
Q

Glucocorticoid receptor is an example of a DNA binding domain class called?

A

Zinc Fingers, other one is basic domain (+) charge

170
Q

True or false: The two types of dimerization domains are leucine zipper and helix-loop-helix domains, although the latter can also bind DNA

A

true

171
Q

_____ is an essential transcription factor for muscle development and is this type of dimerization domain

A

basic helix loop helix

172
Q

______ genes code for helix turn helix class transcription factors that control anterior posterior patterning

A

Homeobox - control fundamental architectural plan of developing embryo

173
Q

What are the 4 factors in P4 medicine?

A

personalized, predictive, preventative, and participatory

174
Q

Define spermatogonia

A

Stem cell (diploid) that is renewed –> meiosis I –> primary spermatocyte –> meiosis II –> spermatid –> spermiogenesis