Clin Path Exam 3 Review Flashcards

1
Q

1.single stranded building blocks

A

1 sugar 1 phosphate 1 base

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2
Q

2.either splicing

A

post transcriptional modification

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3
Q

3.Cleaves or cut the DNA molecules at the recognition site

a. DNA ligases
b. Endocuclease
c. Exonuclease

A

(Restriction) Endonuclease

Bacterial endonucleases that recognize specific short DNA base pair sequences and cleave the DNA molecule only at the recognition site

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4
Q
  1. Which of the following is the correct sequence for DNA?
A

Initiation -> Elongation -> Termination

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5
Q

Steps of DNA synthesis in order

a. chain
b. linked together by phosphodiester
c. nucleotides
d. stripped to two phosphate groups

A

Nucleotides → stripped to two phosphate groups → linked together by phosphodiester bonds → chain

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6
Q
  1. Sections of DNA that specify amino acid sequences of proteins
A

Codons

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7
Q
  1. Which faster and more specific test which will determine a gene and specific mutation or presence of particular CHROMOSOMAL REARRANGEMENT?
A

FISH

fluorescent in situ hybridization

enables detection of gene rearrangements and gene deletions in a number of diseases, especially in cancers

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8
Q
  1. Short, circular dsDNA segments that can be used as vectors in propagating desired segments in bacteria
A

Plasmid

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9
Q
  1. Detection of specific genetic information within a

MORPHOLOGIC CONTEXT?

A

In situ hybridization

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10
Q
  1. Amplify DNA
A

PCR

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11
Q
  1. Used to know the amounts of DNA and RNA in a sequence

a. Helicase - Dependent Amplification
b. Loop - Mediated Amplification
c. nucleic acid sequence-based amplification (NASBA)
d. Strand - Displacement Amplification
e. transcription-mediated amplification (TMA)

A

d. Stranded Displacement

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12
Q
  1. Amplifies RNA targets followed by cDNA amplification

a. Digital Polymerase Chain Reaction
b. End-Point Quantitative Polymerase Chain Reaction
c. Multiple Polymerase Chain Reactions
d. Nested Polymerase Chain Reaction
e. Rapid-Cycle Polymerase Chain Reaction
f. Real-Time (Homogenous, Kinetic) Polymerase Chain Reaction
g. Reverse-Transcriptase Polymerase Chain Reaction

A

reverse transcriptase polymerase chain reaction

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13
Q
  1. Uses two amplification primers

a. Digital Polymerase Chain Reaction
b. End-Point Quantitative Polymerase Chain Reaction
c. Multiple Polymerase Chain Reactions
d. Nested Polymerase Chain Reaction
e. Rapid-Cycle Polymerase Chain Reaction
f. Real-Time (Homogenous, Kinetic) Polymerase Chain Reaction
g. Reverse-Transcriptase Polymerase Chain Reaction

A

Nested polymerase chain reaction

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14
Q

mRNA - Messenger RNA:

A

Encodes amino acid sequence of a polypeptide.

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15
Q

tRNA - Transfer RNA:

A

Brings amino acids to ribosomes during translation

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16
Q

rRNA - Ribosomal RNA:

A

With ribosomal proteins, makes up the ribosomes, the organelles that translate the mRNA.

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17
Q

snRNA - Small nuclear RNA:

A

With proteins, forms complexes that are used in RNA processing in eukaryotes. (Not found in prokaryotes.)

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18
Q
  1. Two or more primer sets for amplification of different targets included in the same reaction mixture

a. Digital Polymerase Chain Reaction
b. End-Point Quantitative Polymerase Chain Reaction
c. Multiple Polymerase Chain Reactions
d. Nested Polymerase Chain Reaction
e. Rapid-Cycle Polymerase Chain Reaction
f. Real-Time (Homogenous, Kinetic) Polymerase Chain Reaction
g. Reverse-Transcriptase Polymerase Chain Reaction

A

c. Multiple Polymerase Chain Reactions

Multiplex PCR

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19
Q
  1. Target amplification and detection steps occur simultaneously in the same tube
A

Real time PCR

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20
Q

Isothermal amplification technology

a. End-Point Quantitative Polymerase Chain Reaction
b. Loop - Mediated Amplification (LAMP)
c. Multiple Polymerase Chain Reactions
d. Real-Time (Homogenous, Kinetic) Polymerase Chain Reaction

A

Loop - Mediated Amplification (LAMP)

also:

  • transcription-mediated amplification (TMA)
  • nucleic acid sequence-based amplification (NASBA)
  • Strand - Displacement Amplification
  • Helicase - Dependent Amplification
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21
Q
  1. RFLP (Restriction Fragment Length Polymorphism)
A

Southern Blotting - DNA sample

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22
Q

Stop codons

A

UAG, UGA, or UAA

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23
Q

Polymerases

a. catalyzes the formation of
phosphodiester bonds during synthesis
b. hydrolyzes phosphodiester bonds
c. found only in bacteria that functions to destroy foreign DNA

A

a. catalyzes the formation of

phosphodiester bonds during synthesis

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24
Q

Nucleases

a. catalyzes the formation of
phosphodiester bonds during synthesis
b. hydrolyzes phosphodiester bonds
c. found only in bacteria that functions to destroy foreign DNA

A

b. hydrolyzes phosphodiester bonds

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25
Q

Restriction endonuclease

a. catalyzes the formation of
phosphodiester bonds during synthesis
b. hydrolyzes phosphodiester bonds
c. found only in bacteria that functions to destroy foreign DNA

A

c. found only in bacteria that functions to destroy foreign DNA

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26
Q

Assay utilizing Formaldehyde gel

A

Northern Blot - RNA sample

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27
Q

Assay utilizing Polyacrylamide gel

A

Western blot - proteins

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28
Q
  1. Cytokine genes characterization.

a. cDNA MICROARRAYS
b. OLIGONUCLEOTIDE MICROARRAYS
c. SEQUENCING ARRAYS

A

b. OLIGONUCLEOTIDE MICROARRAYS

Application: Gene expression profiling and DNA sequencing

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29
Q
  1. DNA sequencing-
A

microarray

Offer a platform for quantifying the expression of thousands of genes at the same time

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30
Q

Steps of PCR

A

Denaturation -> Annealing -> Extension

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31
Q

Which will melt at higher temperature?

a. A-T bond
b. G-C bond

A

b. G-C bond (has 3 hydrogen bonds)

A-T bonds have 2 hydrogen bonds

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32
Q

Melting point is dependent on

A
  • length
  • G:C content
  • amount of mismatch
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33
Q

blotting techniques are used for

A

specific identification of desired DNA or RNA fragments from thousands of cells

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34
Q

What is blotting?

A

process of immobilization of sample nucleic acids on solid support

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35
Q

blotted nucleic acids are used as targets for

A

hybridization experiments

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36
Q

Southern blot used for

A

DNA

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37
Q

Northern blot used for

A

RNA

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38
Q

Western blot used for

A

proteins

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39
Q

FLUORESCENCE IN SITU HYBRIDIZATION

A

o Combination of molecular and cytogenic techniques

o Molecular probe binds to the chromosome instead of a dye

o Quicker, more specific and allows the use of multiple probes in a single hybridization

o Most common goal is to determine whether a gene, a specific mutation, or a particular chromosomal rearrangement is present

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40
Q

Most common pattern of inheritance

A

Autosomal Dominant (AD)

  • at least 1 parent is affected
  • males and females affected with equal frequency
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41
Q

Penetrance:

A

refers to the proportion of persons with the mutation who manifest a phenotypic abnormality

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42
Q

Expressivity:

A

refers to the severity and range of manifestation

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43
Q
  1. Epigenetic mechanism is affected by the following factors except:

Genotype
Karyotype
Phenotype

A

Genotype

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44
Q

Result of abnormal division of centromere

A

Isochromosome

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45
Q

Highly ordered structure composed of DNA and

proteins that carry genetic info

A

chromosome

46
Q
  1. Appearance of an individual from an interaction of environment and genotype
A

Phenotype

47
Q
  1. Strep pneumoniae and H. influenzae
A

B cell and complement defects

48
Q
  1. Recurrent viral fungal and opportunistic infection has a deficiency in:

a. B-Cell lymphocyte
b. Neutrophils
c. T-Cell lymphocyte

A

T-Cell lymphocyte

49
Q
  1. A pt. report hx of infection with catalase positive

bacteria such as staph. -

A

phagocytic

50
Q

centrioles moves to opposite poles

a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase

A

d. Prophase

51
Q

nuclear envelope disappear and chromosome condensation

a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase

A

c. Metaphase

52
Q

separation of sister chromatids

a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase

A

a. Anaphase

53
Q

occurs only in germ cells

a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase

A

b. Meiosis

54
Q

S phase

A
  • DNA replication
  • semi conservative
  • DNA helicase and DNA topoisomerase unwinds the double helix
  • occurs at multiple sites
55
Q

Polymorphism: (is/is not) deleterious and present at least in at least 1% o population

A

Polymorphism: not deleterious and present at least in at least 1% o population

56
Q

genetic change often with a potential deleterious effect

A

Mutation: genetic change often with a potential deleterious effect

57
Q
  1. Signs and symptoms of primary immunodeficiency.
A

> 2 episode of pneumonia per year

58
Q

30.(non-verbatim) 11-month old male. With SMALL OR ABSENT PERIPHERAL LYMPH NODES.

A

X-linked agammaglobulinemia

59
Q
  1. A 5-month-old male has history of bloody diarrhea and recurrent bacterial infections. On physical examination, you noticed bruises and EXZEMATOUS SKIN RASHES. What is the most likely diagnosis?
A

Wiskott-Aldrich syndrome

60
Q
  1. Primary investigation of the immune system?
A. CBC
B. Radiograph
C. Quantitative Immunoglobulins (IgG, IgM, IgA)
D. Pulmonary function testing
E. All of the above
A

E. All of the above

61
Q

Tumor Marker

CA 125

A

Ovarian carcinoma

62
Q

Tumor Marker

CA 19-9

A

Pancreatic carcinoma

63
Q

Tumor Marker

CA 15-3

A

Breast carcinoma

64
Q

Tumor Marker

CA 72-4

A

Gastric carcinoma

65
Q

Tumor Marker

HER2/neu

A

Breast carcinoma

66
Q

B cell and complement defects

A
  • streptococcus pneumoniae
  • haemophilius influenza
  • mycoplasma pneumoniae
  • neisseria meningitis
67
Q

Phagocytic defects

A
  • Pseudomonas aeruginosa
  • Klebisella pneumoniae
  • Serratia marcescens aspergillus
68
Q

T cell defects

A
  • Pneumocystis jiroveci
  • Mycobacteria avium complex
  • Cytomegalovirus
  • Listeria monocytogenesis
  • Herpes virus
69
Q

Staphylococcus aureus is a deficiency in:

a. B cell and complement defects
b. T cell defects
c. Phagocytic defects

A

a. B cell and complement defects

c. Phagocytic defects

70
Q

Candida is a deficiency in:

a. B cell and complement defects
b. T cell defects
c. Phagocytic defects

A

b. T cell defects

c. Phagocytic defects

71
Q

Giardia Crytosporidia is a deficiency in:

a. B cell and complement defects
b. T cell defects
c. Phagocytic defects

A

a. B cell and complement defects

b. T cell defects

72
Q

Signs and symptoms of primary immunodeficiency

A
  • > 2 episode of pneumonia per year
  • > 2 sinus infection/year
  • > 8 new ear infections/year
  • > 1 episode severe infection/year
  • Review IV antibodies to resolve infections
  • Family history
73
Q

Secondary investigation of the immune system

A
  • titers for vaccine administered
  • IgG subclass analysis
  • Lymphocyte enumeration panel
  • Complement level
  • Skin testing
  • Mononuclear cell proliferation studies
  • NBT
74
Q

Staphylococcus spp. defect

A

phagocytic defects

75
Q

Patients with immunoglobulin deficiencies typically report an increased number of (bacterial/viral) infections

A

Patients with immunoglobulin deficiencies typically report an increased number of bacterial infections

76
Q

A 5-month-old male has history of bloody diarrhea and recurrent bacterial infections. On physical examination, you noticed NORMAL AND ENLARGED PERIPHERAL LYMPH NODES

A
  • chronic granulomatous disease (CGD)

* common variable immunodeficiency

77
Q

Streptococcus pneumoniae or Neisseria spp. infections defect

A

Complement deficiencies

78
Q

Repeated viral, fungal, or other opportunistic infections are associated with

A

T cell immunodeficiencies

79
Q
  1. The most common and accurate method of provocative challenge of hypersensitivity reactions.
A

Skin Test

80
Q
  1. Laboratory test for cytotoxic rxn:
A

Direct coombs test

81
Q

Hypersensitivity mediated by cell components (T-lymphocytes)

a. Type I
b. Type II
c. Type III
d. Type IV

A

d. Type IV hypersensitivity mediated by cell components (T-lymphocytes)

Types 1, 2, and 3- mediated by humoral components (antibodies and complement)

82
Q

Match

Type 1:
Type 2:
Type 3:
Type 4:

a. Cell-mediated hypersensitivity reactions
b. Cytotoxic reaction
c. Immediate hypersensitivity reaction
d. Immune complex-mediated reactions

A

Type 1: Immediate hypersensitivity reaction.

Type 2: Cytotoxic reaction

Type 3: Immune complex-mediated reactions

Type 4: Cell-mediated hypersensitivity reactions

ACID
Anaphylaxis, Cytotoxic, Immune Complex, Delayed Type

83
Q

Laboratory tests for anaphylaxis reaction - 2

A
  1. skin test

2. In vitro IgE assay (radioallergosorbent test- RAST)

84
Q

Laboratory test for cytotoxic reaction - 2

A
  1. Direct Coombs’ test

2. Test for anti-thyroid peroxidase antibodies

85
Q
  1. Laboratory test for immune complex mediated reaction

ANA
ANC

A

ANA

86
Q
  1. Laboratory test for cell mediated reaction - 2
A
  1. Tissue biopsy

2. Skin test

87
Q

Laboratory test for immune complex reaction - 4

A
  1. Erythrocyte sedimentation rate (ESR)
  2. Anti-nuclear Ab (ANA)
  3. Anti-streptolysin O (ASO)
  4. Histopath
88
Q
  1. Clinical situations involving hypersensitivity reactions

A. Mycoplasma tuberculosis
B. Brucellosis
C. Chagas’ disease
D. AOTA

A

D. AOTA

89
Q
  1. Clinical situation involving a post streptococcal glomerulonephritis

a. Type I
b. Type II
c. Type III
d. Type IV

A

c. Type III Hypersensitivity

90
Q
  1. Clinical situations involving cytotoxic reactions
A. Autoimmune hemolytic anemia
B. Autoimmune thrombocytopenic
purpura
C. Myasthenia gravis 
D. All of the above
A

D. All of the above

91
Q
  1. Test for phagocytic activity
A

NBT

92
Q

Test of cellular T-cell immunity

- 12

A
  1. CBC with absolute lymphocyte count
  2. Delayed hypersensitivity skin test to recall Ag
  3. Quantification of T-cell and T-cell subsets by flow cytometry
  4. Enzymatic tests: ADA (adenosine deaminase) and PNP (purine nucleoside phosphorylase)
  5. Cytokine receptor expression: IFNyR, IL-2A, gamma chain, IL-12R
  6. Tests of immunoregulation and immunoglobulin
    synthesis.
  7. lymphocyte blast transformation response to mitogens and antigens.
  8. mixed lymphocyte culture assays
  9. tests of lymphocyte-mediated toxicity
  10. molecular test for gene defects
  11. cytokine production assay by elisa: il2, il4, tgf-b, ifny, etc.
  12. Hiv testing as indicated.
93
Q

Test of humoral (b-cell) immunity - 7

A
  • Quantitation of serum igs
  • Isotypes: igg, igm, iga, ige
  • Igg and iga subclass levels
  • Tests for functional abs
  • Ab response after infection to respiratory viruses
  • Enumeration and phenotyping of b cells in blood, surface igg, iga, igm, ige, igd
  • Polyclonal b-cell induced ig production in vitro.
94
Q

Test of phagocytic immunity - 6

A
  • Cbc with absolute neutrophil count
  • Nbt (nitoblue tetrazolium) or dihydrorhodamine flourescence test for respiratory burst activity
  • Chemotaxis assay
  • Serum ige level
  • Phagocytosis and bacterial killing assay
  • Flowcytometry for leukocyte adhesion molecules cd11/18.
95
Q

Test of complement immunity

A

• (ch50 for primary complement deficiency)

• 2. Rabbit rbc screening for alternative pathway hemolytic
activity.

  • Serum c2, c3, c4, c5 and factor b levels
  • Individual component assay
  • C1 esterase inhibitor concentrations
96
Q
  1. Test for Humoral B cells
A

Quantitative Immunoglobulin

Functional abs

97
Q
  1. Confirmatory test for inflammation
A

ESR and C-reactive protein

Tissue biopsy of the affected organ for histologic and immunohistochemical and immunofluoresecent study examinations

98
Q
  1. Positive / Negative cutoffs

A. If the mean plus 2 standard
deviation is chosen as the cutoff, approx. 2.5% of the healthy population will test +
B. If the mean plus 3 standard deviation is chosen as the cutoff, approx. 0.15% of the health population should test +
C. A&B
D. Neither a & b

A

C. A&B

A. If the mean plus 2 standard
deviation is chosen as the cutoff, approx. 2.5% of the healthy population will test +

B. If the mean plus 3 standard deviation is chosen as the cutoff, approx. 0.15% of the health population should test +

99
Q
  1. In Grave’s disease, following pharmacologic therapy, what is the relationship of the titer of TSI with likelihood of remission?
A

The titer of TSI are INVERSELY correlated with the likelihood of remission

100
Q
  1. In nondiabetic individuals with ICA.
A

high ICA indicates subsequent development of type 1 diabetes (DIRECT CORRELATION)

101
Q
  1. 43 year old, female patient has dry mouth
A

Sjögrens syndrome

102
Q
  1. 15 year old, has intestinal malabsorption, thin lips, etc.
A

Centromeric pattern

103
Q

Fine speckled nuclear pattern in indirect immunofluorescence assay

A

SJOGREN’S SYNDROME

104
Q

Centromeric pattern in indirect immunfluorescence assay

A

SCLERODERMA

105
Q

SJOGREN’S SYNDROME

A

A. Dry mouth and tongue.
B. Parotid enlargement.
C. Hypergammaglobulinemic purpura with photosensitivity
d. Fine speckled nuclear pattern in indirect immunofluorescence assay

106
Q

SCLERODERMA

A

A. Intestinal malabsorption, radiologic study showing diffuse dilation and hypoperistaltic waves.
D. Collagen deposition brings thickness to the lingual frenulum.
E. Typical facial appearance in scleroderma: telangiectasias, lack of expression, thin
lips and nose.
F. Advanced sclerodactyly.

107
Q

The dx of systemic rheumatic diseases depends on - 4

A
  1. clinical characteristics
    1. laboratory testing
    2. biopsy (occasionally)
    3. exclusion of other diseases
108
Q

in systemic lupus erythematosus (SLE)

A
A. Scarring discoid 
     lesions. 
B.  Finger vasculitis. 
C.  Vasculitis with ulcers.
D.  Subacute cutaneous  
      geographic lesions.
109
Q

RHEUMATOID ARTHRITIS

A

a. Subcutaneous nodules in elbow region, common in seropositive RA.
b. Episcleritis in RA.
c. Proximal interphalangeal joint synovitis of the third finger in juvenile RA.
d. Typical hand appearance in adult RA, with intrinsic muscle atrophy and cubital deviation of fingers

110
Q

tests for RA

A
  • APF, Anti-perinuclear factor;
  • CCP, cyclic citrullinated peptide
  • ELISA, enzyme-linked immunosorbent assay
  • RF, rheumatoid factor
111
Q

Laboratory tests for evaluating Autoimmune Diseases

A

Tissue biopsy of the affected organ for histologic and immunohistochemical and immunofluoresecent study examinations