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Blood Bank > Module 1 - Applications of Genetics and Immunology in the Blood Bank > Flashcards

Module 1 - Applications of Genetics and Immunology in the Blood Bank Flashcards

0
Q

Define allele.

A

One of 2 or more different genes that occupy a specific locus on the chromosomes

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1
Q

Define gene.

A

Basic units of inheritance that are composed of DNA

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2
Q

Define mitosis.

A

Type of cell division in which each daughter cell is identical to the parent cell. Has the same number of chromosomes.

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3
Q

Define meiosis.

A

Type of cell division unique to germ cells resulting in gametes with one copy of each chromosome

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4
Q

Define homozygous.

A

Possessing a pair of identical alleles at a given locus

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5
Q

Define heterozygous.

A

Possessing different alleles at a given locus

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6
Q

Define hemizygous.

A

Possessing a gene on the X chromosome of a male where there is no equivalent on the Y chromosome

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7
Q

What is a dominant trait?

A

Trait that is expressed whenever the allele encoding for it is present - heterozygous or homozygous for the allele.

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8
Q

What is a codominant trait?

A

A trait that results when both alleles are expressed

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9
Q

What is a recessive trait?

A

Trait that is expressed when the gene encoding it is present on both chromosomes (alleles must be homozygous)

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10
Q

What does amorph mean?

A

There is no detectable trait

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11
Q

What is a phenotype?

A

The physically observed trait

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12
Q

What is a genotype?

A

The actual genetic makeup of an expressed trait

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13
Q

What is a chromosome?

A

Genetic unit made up of genes

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14
Q

What is the position effect?

A

Position of a gene in relation to another gene which effects the resulting expression of the trait.

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15
Q

What is the cis position in relation to the position effect in genetics?

A

Genes are located on the same chromosome of a homologous pair

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16
Q

What is the trans position in relation to the position effect in genetics?

A

Genes located on opposite chromosomes of a homologous pair.

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17
Q

What is linkage in relation to genetics?

A

The physical association between 2 genes located on the same chromosome.

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18
Q

What is linkage disequilibrium?

A

The tendency of specific combinations of alleles at 2 or more linked loci to be inherited together.

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19
Q

What is recombination?

A

The exchange of genetic material between a homologous chromosome pair

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20
Q

What is another term used to describe recombination?

A

Crossing over

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21
Q

What is a locus?

A

The position or location of a gene on the chromosome

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22
Q

What is the Law of Independent Segregation?

A

The demonstration of alleles segregating independently and remaining unchanged when passing into different gametes during meiosis.

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23
Q

What is the Law of Independent Assortment?

A

Demonstrates that the inheritance of one gene does not influence the inheritance of another gene at a different locus. Different hereditary characteristics are inherited separately from each other.

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24
In a pedigree chart, what does a square represent?
Males
25
In a pedigree chart, what does a circle represent?
Females
26
In a pedigree chart, what does a horizontal line represent?
Represents a mating/pairing
27
In a pedigree chart, what does a vertical line represent?
Offspring of a mating
28
In a pedigree chart, what does a solid circle/square represent?
An affected (expressed trait) individual
29
In a pedigree chart, what does an empty circle/square represent?
An individual who does not have an expressed trait
30
In a pedigree chart, what does a half solid/half empty square or circle represent?
Indicates a carrier of a trait
31
How many pairs of chromosomes do humans have?
23 pairs; 22 autosomes and 1 sex chromosome
32
When does recombination occur in meiosis?
In the early stages
33
What is incomplete dominance?
Both traits are expressed but effect of 1 allele is stronger than the other
34
What sort of inheritance pattern do blood groups usually display?
Co-dominant in expression.
35
In pedigree charts, what is a propositus or proposita?
Person of interest (reason the study was performed)
37
What is an autosomal dominant trait?
Mutated gene is dominant and only one copy is needed for the gene to be expressed.
38
What is an autosomal recessive trait?
Mutated gene is recessive and 2 copies are required for the trait to be expressed.
39
What is an x-linked dominant trait?
Trait is expressed on x chromosome and only one copy is needed for the trait to be expressed in males and females.
40
What is an x-linked recessive trait?
Trait is expressed in males and must have 2 copies of the gene for the trait to be expressed in females.
41
What is the formula representing homozygotes and heterozygotes in a population?
p^2 + 2pq + q^2 = 1 (100%)
42
What is the formula representing the frequency of 2 alleles?
p + q = 1
43
What is the formula used to calculate % compatibility?
100 - % phenotype = % compatible
44
What is the formula used to calculate the number of units needed to be screened to find antigen negative units for transfusion?
(%compatible)x = # of units required; solve for x
45
How would you calculate % compatibility if multiple antibodies are present in a patient's plasma?
Multiply % compatibility for each antigen to find total compatibility
46
What is recombinant DNA?
DNA fragments placed into a vector, then a host and the host is used to produce clones with the DNA fragments in them.
47
How is recombinant DNA used in relation to immunohematology?
Used to produce large amounts of a substance under its control; reagent antisera, erythropoietin, thrombopoietin and antibodies for therapeutic purposes
48
What is the nucleic acid amplication (NAT) test used for in immunohematology?
Tests for infectious disease and ensures safety of the blood supply
49
What is antigen detection used for in immunohematology?
Typing patients who have been recently transfused, typing patients with a weak antigen expression, and parentage testing.
50
What is an antigen?
A substance capable of eliciting an immune response, usually production of an antibody
51
What is an antigenic determinant (epitope)?
The portion of the antigen that interacts directly with the antibody
52
What is an immunogenicity?
The degree to which an antigen is likely to elicit an immune response
53
What is an immunoglobulin?
An antibody; a protein produced by plasma cells which has specificity to an antigen
54
What are the cellular components of the innate/natural immunity line of defense?
Phagocytes
55
What are the humoral components of the innate/natural immunity line of defense?
Complement, cytokines, inflammatory reactions
56
What are the cellular components of the acquired/adaptive immunity line of defense?
B and T cells
57
What are the humoral components of the acquired/adaptive immunity line of defense?
Antibodies
58
What is innate immunity?
Natural immunity; a non-specific line of defense in response to foreign/non foreign substances
59
What is acquired immunity?
Adaptive immunity; specific line of defense that will discriminate between self and non self
60
What are antigen presenting cells?
Primarily macrophages and dendritic cells
61
How do antigen presenting cells function?
Continually sample proteins in the body by ingesting them, breaking them down into peptides, and presents the peptides on their surface
62
APCs interact with which cells to produce an immune response?
T helper cells
63
Where in the body do T cells mature?
Thymus
64
What are the 2 types of T cells?
T helper and T cytotoxic cells
65
What are the function of T cells?
They produce cytokines that result in an inflammatory response
66
Where in the body do B cells mature?
Bone marrow
67
How are the 2 types of T cells differentiated?
Membrane markers called clusters of differentiation
68
What do B cells evolve into?
Plasma cells
69
What is a primary immune response?
The first time an individual encounters an antigen and responds
70
What is a secondary (anamnestic) immune response?
On subsequent exposure to an antigen, the memory cells generated in the primary response will respond
71
What is a lag phase?
No detectable antibody during this time due to T and B cells processing the antigen
72
How long can a lag phase be in a primary immune response?
Days to months; usually 3-4 weeks
73
What immunoglobulin class is produced predominantly in a primary immune response?
IgM
74
How long can a lag phase be in a secondary immune response?
There can be detectable antibody within hours but usually, it takes 1-2 days
75
What immunoglobulin class is produce predominantly in a secondary immune response?
IgG
76
In a secondary immune response, is more or less antigen needed to induce a response?
Less
77
What are the functions of immunoglobulins?
Bind antigen, facilitate phagocytosis, fix complement and neutralize toxic substances
78
Immunoglobulins make up how much(%) of the total plasma protein in the body?
20%
79
What are immunoglobulins composed of?
2 identical heavy chains and 2 identical light chains
80
How are immunoglobulins classified?
By the structure of their heavy chains
81
What are the heavy chains of immunoglobulins composed of?
Approximately <100 amino acids
82
What is the Fab part of an immunoglobulin?
Antigen binding sites
83
What is the Fc part of an immunoglobulin?
Complement attachment site
84
How do disulphide bonds function on an immunoglobulin?
Hold the heavy and light chains together at hinge region
85
How many subclasses does IgG have?
4
86
How are IgG subclasses differentiated?
Small differences in the heavy chain region of the gamma chain and # of disulfide bonds between heavy chains at hinge
87
Which IgG subclass does not fix complement?
IgG-4
88
Which IgG subclass accounts for 65% of total IgG?
IgG-1
89
How many subclasses does IgM have?
2
90
Which immunoglobulin is predominantly found in secretions?
IgA
91
What factors can influence immunogenicity?
Size, charge, conformation/complexity, accessibility of antigen, amount of antigen, solubility, chemical composition
92
What is an alloantibody?
Produced in response to a foreign antigen
93
What is an autoantibody?
Produced in response to self antigens
94
What is an actively acquired antibody?
The patient's own immune system is producing the antibody
95
What is a passively acquired antibody?
The antibody entered the patient's system via placental transfer or transfusion
96
What is the principle of the antiglobulin test?
Utilizes AHG reagents to crosslink and connect adjacent red blood cells sensitized with IgG and/or complement
97
What is polyclonal antibody reagent production?
Purified human proteins injected into an animal. Animal's immune system recognizes them as foreign and develops antibodies. Animal is bled to isolate the antihuman antibodies.
98
What is monoclonal antibody reagent production?
Antibody producing mouse spleen cells are fused with mouse myeloma cells to produce a hybridoma. These produce a pure uncontaminated source of reagent.
99
What is a polyspecific reagent?
Reagents that contain anti-IgG and anti-C3d
100
What is a polyspecific polyclonal reagent?
Anti-IgG and anti-C3d; may containg antibodies to other complement proteins
101
What is a polyspecific monoclonal reagent?
Blend of either rabbit anti-IgG and monoclonal anti-C3b-C3d OR a blend of monoclonal anti-IgG and monoclonal anti-C3b-C3d
102
What is a monospecific polyclonal reagent?
Must contain anti-IgG (against either light or heavy chains) but NO anti-complement
103
What is a monospecific monoclonal reagent?
Contains murine monoclonal Anti-IgG only
104
What is a monospecific anti-complement reagent?
Antibodies to C3d or C3b or both and NO antibodies against human immunoglobulins
105
What does the Direct Antiglobulin Test look for?
Detects IgG and/or complement bound to the red blood cells IN VIVO.
106
What type of AHG reagent must you use for the DAT?
Polyspecific reagents must be used
107
What does the Indirect Antiglobulin Test look for?
Detects IgG and/or complement bound to the red blood cells in vitro
108
What type of AHG reagent must be used for the IAT?
Polyspecific or monospecific reagents may be used.
109
What does in vivo mean?
Inside of the body
110
What does in vitro mean?
Outside of the body
111
What is the sample required for the DAT?
Whole blood in an EDTA tube.
112
What is the sample required for the IAT?
Plasma centrifuged in an EDTA tube
113
What type of situations can the DAT be applied?
Transfusion reactions, HDFN, Autoimmune hemolytic anemia, drug induced hemolytic anemia and passively acquired antibodies (plasma transfusion)

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