Clin Path Exam 3 Review Flashcards
1
Q
1.single stranded building blocks
A
1 sugar 1 phosphate 1 base
2
Q
2.either splicing
A
post transcriptional modification
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
4
Q
- Which of the following is the correct sequence for DNA?
A
Initiation -> Elongation -> Termination
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
6
Q
- Sections of DNA that specify amino acid sequences of proteins
A
Codons
7
Q
- 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
8
Q
- Short, circular dsDNA segments that can be used as vectors in propagating desired segments in bacteria
A
Plasmid
9
Q
- Detection of specific genetic information within a
MORPHOLOGIC CONTEXT?
A
In situ hybridization
10
Q
- Amplify DNA
A
PCR
11
Q
- 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
12
Q
- 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
13
Q
- 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
14
Q
mRNA - Messenger RNA:
A
Encodes amino acid sequence of a polypeptide.
15
Q
tRNA - Transfer RNA:
A
Brings amino acids to ribosomes during translation
16
Q
rRNA - Ribosomal RNA:
A
With ribosomal proteins, makes up the ribosomes, the organelles that translate the mRNA.
17
Q
snRNA - Small nuclear RNA:
A
With proteins, forms complexes that are used in RNA processing in eukaryotes. (Not found in prokaryotes.)
18
Q
- 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
19
Q
- Target amplification and detection steps occur simultaneously in the same tube
A
Real time PCR
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
21
Q
- RFLP (Restriction Fragment Length Polymorphism)
A
Southern Blotting - DNA sample
22
Q
Stop codons
A
UAG, UGA, or UAA
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
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
25
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
c. found only in bacteria that functions to destroy foreign DNA
26
Assay utilizing Formaldehyde gel
Northern Blot - RNA sample
27
Assay utilizing Polyacrylamide gel
Western blot - proteins
28
19. Cytokine genes characterization.
a. cDNA MICROARRAYS
b. OLIGONUCLEOTIDE MICROARRAYS
c. SEQUENCING ARRAYS
b. OLIGONUCLEOTIDE MICROARRAYS
Application: Gene expression profiling and DNA sequencing
29
20. DNA sequencing-
microarray
Offer a platform for quantifying the expression of thousands of genes at the same time
30
Steps of PCR
Denaturation -> Annealing -> Extension
31
Which will melt at higher temperature?
a. A-T bond
b. G-C bond
b. G-C bond (has 3 hydrogen bonds)
---
A-T bonds have 2 hydrogen bonds
32
Melting point is dependent on
- length
- G:C content
- amount of mismatch
33
blotting techniques are used for
specific identification of desired DNA or RNA fragments from thousands of cells
34
What is blotting?
process of immobilization of sample nucleic acids on solid support
35
blotted nucleic acids are used as targets for
hybridization experiments
36
Southern blot used for
DNA
37
Northern blot used for
RNA
38
Western blot used for
proteins
39
FLUORESCENCE IN SITU HYBRIDIZATION
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
40
Most common pattern of inheritance
Autosomal Dominant (AD)
- at least 1 parent is affected
- males and females affected with equal frequency
41
Penetrance:
refers to the proportion of persons with the mutation who manifest a phenotypic abnormality
42
Expressivity:
refers to the severity and range of manifestation
43
21. Epigenetic mechanism is affected by the following factors except:
Genotype
Karyotype
Phenotype
Genotype
44
Result of abnormal division of centromere
Isochromosome
45
Highly ordered structure composed of DNA and
| proteins that carry genetic info
chromosome
46
24. Appearance of an individual from an interaction of environment and genotype
Phenotype
47
26. Strep pneumoniae and H. influenzae
B cell and complement defects
48
27. Recurrent viral fungal and opportunistic infection has a deficiency in:
a. B-Cell lymphocyte
b. Neutrophils
c. T-Cell lymphocyte
T-Cell lymphocyte
49
28. A pt. report hx of infection with catalase positive
| bacteria such as staph. -
phagocytic
50
centrioles moves to opposite poles
a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase
d. Prophase
51
nuclear envelope disappear and chromosome condensation
a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase
c. Metaphase
52
separation of sister chromatids
a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase
a. Anaphase
53
occurs only in germ cells
a. Anaphase
b. Meiosis
c. Metaphase
d. Prophase
b. Meiosis
54
S phase
- DNA replication
- semi conservative
- DNA helicase and DNA topoisomerase unwinds the double helix
- occurs at multiple sites
55
Polymorphism: (is/is not) deleterious and present at least in at least 1% o population
Polymorphism: not deleterious and present at least in at least 1% o population
56
genetic change often with a potential deleterious effect
Mutation: genetic change often with a potential deleterious effect
57
29. Signs and symptoms of primary immunodeficiency.
> 2 episode of pneumonia per year
58
30.(non-verbatim) 11-month old male. With SMALL OR ABSENT PERIPHERAL LYMPH NODES.
X-linked agammaglobulinemia
59
31. 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?
Wiskott-Aldrich syndrome
60
33. 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
```
E. All of the above
61
Tumor Marker
CA 125
Ovarian carcinoma
62
Tumor Marker
CA 19-9
Pancreatic carcinoma
63
Tumor Marker
CA 15-3
Breast carcinoma
64
Tumor Marker
CA 72-4
Gastric carcinoma
65
Tumor Marker
HER2/neu
Breast carcinoma
66
B cell and complement defects
- streptococcus pneumoniae
- haemophilius influenza
- mycoplasma pneumoniae
- neisseria meningitis
67
Phagocytic defects
- Pseudomonas aeruginosa
- Klebisella pneumoniae
- Serratia marcescens aspergillus
68
T cell defects
- Pneumocystis jiroveci
- Mycobacteria avium complex
- Cytomegalovirus
- Listeria monocytogenesis
- Herpes virus
69
Staphylococcus aureus is a deficiency in:
a. B cell and complement defects
b. T cell defects
c. Phagocytic defects
a. B cell and complement defects
| c. Phagocytic defects
70
Candida is a deficiency in:
a. B cell and complement defects
b. T cell defects
c. Phagocytic defects
b. T cell defects
| c. Phagocytic defects
71
Giardia Crytosporidia is a deficiency in:
a. B cell and complement defects
b. T cell defects
c. Phagocytic defects
a. B cell and complement defects
| b. T cell defects
72
Signs and symptoms of primary immunodeficiency
* > 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
Secondary investigation of the immune system
- titers for vaccine administered
- IgG subclass analysis
- Lymphocyte enumeration panel
- Complement level
- Skin testing
- Mononuclear cell proliferation studies
- NBT
74
Staphylococcus spp. defect
phagocytic defects
75
Patients with immunoglobulin deficiencies typically report an increased number of (bacterial/viral) infections
Patients with immunoglobulin deficiencies typically report an increased number of bacterial infections
76
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
* chronic granulomatous disease (CGD)
| * common variable immunodeficiency
77
Streptococcus pneumoniae or Neisseria spp. infections defect
Complement deficiencies
78
Repeated viral, fungal, or other opportunistic infections are associated with
T cell immunodeficiencies
79
34. The most common and accurate method of provocative challenge of hypersensitivity reactions.
Skin Test
80
35. Laboratory test for cytotoxic rxn:
Direct coombs test
81
Hypersensitivity mediated by cell components (T-lymphocytes)
a. Type I
b. Type II
c. Type III
d. Type IV
d. Type IV hypersensitivity mediated by cell components (T-lymphocytes)
----
Types 1, 2, and 3- mediated by humoral components (antibodies and complement)
82
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
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
Laboratory tests for anaphylaxis reaction - 2
1. skin test
| 2. In vitro IgE assay (radioallergosorbent test- RAST)
84
Laboratory test for cytotoxic reaction - 2
1. Direct Coombs’ test
| 2. Test for anti-thyroid peroxidase antibodies
85
36. Laboratory test for immune complex mediated reaction
ANA
ANC
ANA
86
37. Laboratory test for cell mediated reaction - 2
1. Tissue biopsy
| 2. Skin test
87
Laboratory test for immune complex reaction - 4
1. Erythrocyte sedimentation rate (ESR)
2. Anti-nuclear Ab (ANA)
3. Anti-streptolysin O (ASO)
4. Histopath
88
39. Clinical situations involving hypersensitivity reactions
A. Mycoplasma tuberculosis
B. Brucellosis
C. Chagas' disease
D. AOTA
D. AOTA
89
40. Clinical situation involving a post streptococcal glomerulonephritis
a. Type I
b. Type II
c. Type III
d. Type IV
c. Type III Hypersensitivity
90
41. Clinical situations involving cytotoxic reactions
```
A. Autoimmune hemolytic anemia
B. Autoimmune thrombocytopenic
purpura
C. Myasthenia gravis
D. All of the above
```
D. All of the above
91
42. Test for phagocytic activity
NBT
92
Test of cellular T-cell immunity
| - 12
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
Test of humoral (b-cell) immunity - 7
* 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
Test of phagocytic immunity - 6
* 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
Test of complement immunity
• (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
44. Test for Humoral B cells
Quantitative Immunoglobulin
| Functional abs
97
45. Confirmatory test for inflammation
ESR and C-reactive protein
Tissue biopsy of the affected organ for histologic and immunohistochemical and immunofluoresecent study examinations
98
46. 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
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
47. In Grave’s disease, following pharmacologic therapy, what is the relationship of the titer of TSI with likelihood of remission?
The titer of TSI are INVERSELY correlated with the likelihood of remission
100
48. In nondiabetic individuals with ICA.
high ICA indicates subsequent development of type 1 diabetes (DIRECT CORRELATION)
101
49. 43 year old, female patient has dry mouth
Sjögrens syndrome
102
50. 15 year old, has intestinal malabsorption, thin lips, etc.
Centromeric pattern
103
Fine speckled nuclear pattern in indirect immunofluorescence assay
SJOGREN’S SYNDROME
104
Centromeric pattern in indirect immunfluorescence assay
SCLERODERMA
105
SJOGREN’S SYNDROME
A. Dry mouth and tongue.
B. Parotid enlargement.
C. Hypergammaglobulinemic purpura with photosensitivity
d. Fine speckled nuclear pattern in indirect immunofluorescence assay
106
SCLERODERMA
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
The dx of systemic rheumatic diseases depends on - 4
1. clinical characteristics
2. laboratory testing
3. biopsy (occasionally)
4. exclusion of other diseases
108
in systemic lupus erythematosus (SLE)
```
A. Scarring discoid
lesions.
B. Finger vasculitis.
C. Vasculitis with ulcers.
D. Subacute cutaneous
geographic lesions.
```
109
RHEUMATOID ARTHRITIS
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
tests for RA
- APF, Anti-perinuclear factor;
- CCP, cyclic citrullinated peptide
- ELISA, enzyme-linked immunosorbent assay
- RF, rheumatoid factor
111
Laboratory tests for evaluating Autoimmune Diseases
Tissue biopsy of the affected organ for histologic and immunohistochemical and immunofluoresecent study examinations
