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MCBM Exam 5 > Review #2 > Flashcards

Review #2 Flashcards

1
Q

What is pathogenesis?

A

The mechanism of development of a pathology

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2
Q

What is pathophysiology?

A

The functional changes associated with or resulting from the disease or injury

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3
Q

What are morphological changes?

A

Structural alterations in cells or tissues that are characteristic of a disease

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4
Q

What does a holoprosencephaly baby look like?

A

Cyclops

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5
Q

What teratogens can cause holoprosencephaly?

A

Alcohol

Retinoic acid

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6
Q

What things can cause holoprosencephaly?

A

Genetic factors (10-15%) autosomal recessive
Teratogens
Maternal diabetes
Maternal hypocholesterolemia

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7
Q

What signaling is lost in holoprosencephaly?

A

Anterior pituitary signaling

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8
Q

What is craniostosis?

A

When the sutures close too early, and pressure of the growing brain pushes out and deforms the head

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9
Q

What are the two types of craniostosis?

A

Syndromic

Non-syndromic

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10
Q

What are the diseases of syndromic craniostosis?

A

Pfeiffer
Apert/Crouzon
Saethre-Chotzen
Greig cephalopolysyndactyly

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11
Q

What causes non-syndromic craniostosis?

A

Compression associated:

  • Multiple fetuses
  • Uterine malformation
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12
Q

What disease comes from a 3rd and 4th pharyngeal arch disorder?

A

DiGeorge syndrome

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13
Q

What is absent in DiGeorge syndrome?

A

Absence of thymus &/or parathyroid

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14
Q

What symptoms are associated with DiGeorge syndrome?

A 
Micrognathia
Hypertelorism
Low set, angled ears
Short philtrum
Choanal atresia
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15
Q

What is hypertelorism?

A

Wide set eyes

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16
Q

What is choanal atresia?

A

Extra tissu in the nasal passage, causing respiratory problems.

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17
Q

What syndrome/disease is caused by a 1st arch disorder?

A

Treacher Collins

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18
Q

Treacher Collins is cause by a lack of ___ ___ migration/population

A

Neural Crest

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19
Q

What is the suspect gene in Treacher Collins?

A

Tcof1

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20
Q

What is Tcof1?

A

A transcription factor gene on chromosome 5 - Treacher Collins

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21
Q

What is a colboma?

A

Eyebrow notch

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22
Q

In what disease/syndrome is a coloboma often seen?

A

Treacher Collins

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23
Q

What does TORCH stand for? (Teratogens)

A 
Toxoplasmosis
Other: HIV, syphillis, VZV (chickenpox)
Rubella
CMV (cytomegola virus)
HSV (herpes simplex)
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24
Q

What are symptoms of Cri du Chat syndrome?

A

Microcephaly
Micrognathia
Hypertelorism
Severe retardation

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25
Q

What causes Cri du Chat syndrome?

A

Deletion of 5p gene

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26
Q

Cri du Chat is a partial ___.

A

Monosomy

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27
Q

What syndrome is trisomy 13?

A

Patau

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28
Q

What syndrome is trisomy 18?

A

Edward

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29
Q

What syndrome is trosomy 21?

A

Down’s

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30
Q

Why aren’t autosomal trisomies found?

A

They are lethal

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31
Q

What is XXX?

A

Super female - common abnormal karyotype

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32
Q

What is XO?

A

Turner’s syndrome

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33
Q

What is the only recognized monosomy?

A

Turner’s syndrome

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34
Q

What is XXY?

A

Kleinfelter syndrome

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35
Q

What is XYY?

A

Super male - common abnormal karyotype

Richard Speck

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36
Q

During which meiosis does a nondisjunction have to occur to yield uniparental disomy?

A

Meiosis II

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37
Q

What happens in a nondisjunction during meiosis II?

A

Sister chromatids don’t disjoin and both go to one daughter cell

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38
Q

What are some general characteristics of multifactorial disorders?

A

Run in families
No single gene
Usually a combination of genetics & environmental factors required for phenotypic expression
Don’t follow Mendelian genetics

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39
Q

What are some examples of multifactorial disorders?

A 
Coronary heart disease
IDDM
Hypertension
Some forms of cancer
Developmental defects
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40
Q

What are some multifactorial disorders from developmental defects?

A

Congenital heart defects
Spina bifida
Anencephaly
Cleft palate

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41
Q

What is an anomaly?

A

A structural defect of any type

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42
Q

What is a malformation?

A

Intrinsic; genetic

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43
Q

What is a deformation?

A

Extrinsic; mechanical

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44
Q

What is a disruption?

A

Extrinsic; teratogen exposure

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45
Q

What is a syndrome?

A

Multiple anomalies that occur independently, but are caused by a single defect

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46
Q

What is a sequence?

A

When a structural or mechanical factor leads to multiple secondary effects

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47
Q

When is a maternal serum screen done?

A

15-20 weeks of gestation

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48
Q

In an MSS, the result shows hight HCG. What does the baby probably have?

A

Trisomy 21 - Down’s

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49
Q

An MSS shows high AFP. What does the baby probably have?

A

Neural tube defects

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50
Q

What trisomies can MSS uncover?

A

18

21

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51
Q

What does MSS stand for?

A

Maternal serum screen

52
Q

What are homologues?

A

Identical chromosomes originating from different partents

53
Q

What are sister chromatids?

A

Duplicated copy of each chromosome following S phase

54
Q

What connects sister chromatids?

A

Centromere

55
Q

What are bivalents or tetrads?

A

A pair of duplicated homologues - 2 pairs of sister chromatids

56
Q

When does meiosis begin in males?

A

At puberty

57
Q

What is produced from meiosis in males?

A

4 haploid gametes produces/PGC

58
Q

When does meiosis begin in females?

59
Q

What is produced in female meiosis?

A

1 haploid gamete produced/PGC

60
Q

In prophase of meiosis I, oocytes are arrested at ___ stage, until ovulation.

61
Q

What is the prolonged female diplotene stage called?

A

Dictyotene

62
Q

What happens during leptotene?

A

Chromosomes begin to condense

63
Q

What happens during zygotene?

A

Tetrads from between homologues - unique to meiosis

64
Q

What happens during pachytene?

A

Homologous recombination occurs

65
Q

What happens during diplotene?

A

Bivalents “repel”; chiasmata become evident

66
Q

What happens during diakinesis?

A

Chromosomes are maximally condensed

67
Q

What triggers the proteolytic breakdown of the ovarian wall for ovulation?

68
Q

The LH surge causes what?

A

The ovulation of the egg, and completion of meiosis I

69
Q

LH triggers the breakdown of the ovarian wall, but what actually does the breaking down?

A

Serine proteases, plasmin, from the granulosa

70
Q

What inhibits the granulosa-secreted enzymes?

A

Theca cells

71
Q

IP3 and CA2+ go through ___ ___ into the oocyte.

A

Gap junctions

72
Q

When IP3 & Ca2+ enter the oocyte, what is activated?

73
Q

What does PKC target?

A

C-mos - an oocyte specific kinase

74
Q

What does C-mos do?

A

Increases MPF activity

75
Q

What is MPF?

A

Maturation promoting factor, which is cyclin B + p34CDK1

76
Q

What does MPF target?

A

Nuclear lamins, triggering germinal vesicle breakdown and completion of meiosis I

77
Q

How long does spermiogenesis take?

A

About 64 days

78
Q

How many sperm mature per day?

A

About 300 million

79
Q

What builds the acrosomal cap for the sperm?

80
Q

What is the first step of fertilization?

A

Sperm binds to the zona pellucida at the ZP3 receptor

81
Q

What is the 2nd step of fertilization?

A

Increase in Ca2+ releases acrosomal enzymes from sperm to break down zona pellucida cells

82
Q

What happens during the 3rd step of fertilization?

A

The sperm penetrates the zona pellucida

83
Q

What is the 4th step of fertilization?

A

Sperm and egg membranes fuse, triggering a cortical reaction from the egg (depolarization of the egg membrane)

84
Q

What happen sin the 5 step of fertilization?

A

Sperm nucleus enters the egg cytoplasm

85
Q

What does ZP3 binding cause?

A

The opening of Ca channels

86
Q

When Ca channels open during fertilization, what does the influx of Ca cause?

A

The acrosomal reaction

87
Q

What helps produce perforation in the acrosome?

A

ACE - angiotensin converting enzyme

88
Q

What enzymes are released from the acrosome to break down the zona pellucida?

A

Hyaluronidase

Acrosin

89
Q

What does the 2nd Ca2+ spike cause?

A

Cortical reaction from the oocyte

90
Q

What does the cortical reaction do?

A

Cortical granuals cause the shortening of ZP2 and ZP3, tightening the matrix and blocking polyspermy

91
Q

What occurs post-fertilization?

A

Oocyte completes 2nd meiotic division
Male and female pronuclei form and then breakdown
Mitotic spindle organizes

92
Q

The mitotic spindle organizes using what?

A

The centriole components from the sperm tail

93
Q

In interphase, a somatic cell is ___ with _N.

A

Diploid

2N

94
Q

A somatic cell after S phase is ___ with _N (intermediate phase).

A

Diploid

4N

95
Q

A gamete prior to meiosis II is ___ with _N (intermediate)

A

Haploid

2N

96
Q

A gamete is ___ with _N.

A

Haploid

1N

97
Q

HPV is highly associated with which cancer?

A

Cervical cancer

98
Q

Why is HPV associated with cancers?

A

HPV early proteins E6 and E7 bind and inactivate p53 and pRb tumor suppressors - cell cycle becomes unregulated

99
Q

HPV E6 also targets ___, that so cells that should have been apotptosed get maintained.

100
Q

What does Cyclin D do?

A

Pushes the cell cycle from G0 to G1

101
Q

Where is Cyclin E found?

A

At the G1/S checkpoint

102
Q

What is Cyclin A for?

A

DNA synthesis

103
Q

Cyclin B is for entry into what?

104
Q

What is the most important checkpoint of the cell cycle?

105
Q

What proteins are active at the G1/S checkpoint?

A

p53

Retinablastoma proteins

106
Q

What occurs at the G1/S checkpoint?

A

Damage assessment

107
Q

What is the Mid S checkpoint?

A

DNA checkpoint I

108
Q

If there is something amiss at the Mid S checkpoint, what could it lead to?

A

Telomere dysfunction
Rearrangements
Amplifications

109
Q

What is the G2/M checkpoint?

A

DNA replication checkpoint II

110
Q

What is the Post-M checkpoint?

A

Polyploidy checkpoint

111
Q

What are the proteins for ubiquitin ligases?

112
Q

What are the transcription factors?

A

Jun
Fos
Myc
E2F

113
Q

What does E2F cause?

A

Causes transcription

If it is activated, the cell will be pushed into S phase

114
Q

What are the tumor suppressors?

115
Q

What is the important inhibitor protein?

116
Q

What does cyclin D do?

A

Takes the cell from G0 to G1

117
Q

Where is cycling E found?

A

At G1/S checkpoint

118
Q

What is cyclin A for?

A

DNA synthesis

119
Q

When is cyclin B seen?

A

On entry into mitosis

120
Q

What does ARMS PCR/Allele specific PCR look for?

A

Detects point mutations using allele specific primers

121
Q

PCR products are fractionated by what?

A

Gel electrophoresis

122
Q

What are the steps of PCR?

A

Heat denature DNA
Add primers to section you want to amplify
DNA polymerase (Taq pol) copies both directions
Repeat

123
Q

What is the ampicillin resistance site of plasmid pBR322?

124
Q

What is the tetracycline resistance site of plasmid pBR 322?

A

BamHI/SalI

125
Q

How was Dolly created?

A

Nucleus from mammary cell wan injected into enucleated egg

MCBM Exam 5 (11 decks)

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