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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
Q

In a pedigree chart, what does a square represent?

A

Males

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25
Q

In a pedigree chart, what does a circle represent?

A

Females

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26
Q

In a pedigree chart, what does a horizontal line represent?

A

Represents a mating/pairing

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27
Q

In a pedigree chart, what does a vertical line represent?

A

Offspring of a mating

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28
Q

In a pedigree chart, what does a solid circle/square represent?

A

An affected (expressed trait) individual

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29
Q

In a pedigree chart, what does an empty circle/square represent?

A

An individual who does not have an expressed trait

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30
Q

In a pedigree chart, what does a half solid/half empty square or circle represent?

A

Indicates a carrier of a trait

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31
Q

How many pairs of chromosomes do humans have?

A

23 pairs; 22 autosomes and 1 sex chromosome

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32
Q

When does recombination occur in meiosis?

A

In the early stages

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33
Q

What is incomplete dominance?

A

Both traits are expressed but effect of 1 allele is stronger than the other

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34
Q

What sort of inheritance pattern do blood groups usually display?

A

Co-dominant in expression.

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35
Q

In pedigree charts, what is a propositus or proposita?

A

Person of interest (reason the study was performed)

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37
Q

What is an autosomal dominant trait?

A

Mutated gene is dominant and only one copy is needed for the gene to be expressed.

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38
Q

What is an autosomal recessive trait?

A

Mutated gene is recessive and 2 copies are required for the trait to be expressed.

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39
Q

What is an x-linked dominant trait?

A

Trait is expressed on x chromosome and only one copy is needed for the trait to be expressed in males and females.

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40
Q

What is an x-linked recessive trait?

A

Trait is expressed in males and must have 2 copies of the gene for the trait to be expressed in females.

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41
Q

What is the formula representing homozygotes and heterozygotes in a population?

A

p^2 + 2pq + q^2 = 1 (100%)

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42
Q

What is the formula representing the frequency of 2 alleles?

A

p + q = 1

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43
Q

What is the formula used to calculate % compatibility?

A

100 - % phenotype = % compatible

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44
Q

What is the formula used to calculate the number of units needed to be screened to find antigen negative units for transfusion?

A

(%compatible)x = # of units required; solve for x

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45
Q

How would you calculate % compatibility if multiple antibodies are present in a patient’s plasma?

A

Multiply % compatibility for each antigen to find total compatibility

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46
Q

What is recombinant DNA?

A

DNA fragments placed into a vector, then a host and the host is used to produce clones with the DNA fragments in them.

47
Q

How is recombinant DNA used in relation to immunohematology?

A

Used to produce large amounts of a substance under its control; reagent antisera, erythropoietin, thrombopoietin and antibodies for therapeutic purposes

48
Q

What is the nucleic acid amplication (NAT) test used for in immunohematology?

A

Tests for infectious disease and ensures safety of the blood supply

49
Q

What is antigen detection used for in immunohematology?

A

Typing patients who have been recently transfused, typing patients with a weak antigen expression, and parentage testing.

50
Q

What is an antigen?

A

A substance capable of eliciting an immune response, usually production of an antibody

51
Q

What is an antigenic determinant (epitope)?

A

The portion of the antigen that interacts directly with the antibody

52
Q

What is an immunogenicity?

A

The degree to which an antigen is likely to elicit an immune response

53
Q

What is an immunoglobulin?

A

An antibody; a protein produced by plasma cells which has specificity to an antigen

54
Q

What are the cellular components of the innate/natural immunity line of defense?

A

Phagocytes

55
Q

What are the humoral components of the innate/natural immunity line of defense?

A

Complement, cytokines, inflammatory reactions

56
Q

What are the cellular components of the acquired/adaptive immunity line of defense?

A

B and T cells

57
Q

What are the humoral components of the acquired/adaptive immunity line of defense?

A

Antibodies

58
Q

What is innate immunity?

A

Natural immunity; a non-specific line of defense in response to foreign/non foreign substances

59
Q

What is acquired immunity?

A

Adaptive immunity; specific line of defense that will discriminate between self and non self

60
Q

What are antigen presenting cells?

A

Primarily macrophages and dendritic cells

61
Q

How do antigen presenting cells function?

A

Continually sample proteins in the body by ingesting them, breaking them down into peptides, and presents the peptides on their surface

62
Q

APCs interact with which cells to produce an immune response?

A

T helper cells

63
Q

Where in the body do T cells mature?

A

Thymus

64
Q

What are the 2 types of T cells?

A

T helper and T cytotoxic cells

65
Q

What are the function of T cells?

A

They produce cytokines that result in an inflammatory response

66
Q

Where in the body do B cells mature?

A

Bone marrow

67
Q

How are the 2 types of T cells differentiated?

A

Membrane markers called clusters of differentiation

68
Q

What do B cells evolve into?

A

Plasma cells

69
Q

What is a primary immune response?

A

The first time an individual encounters an antigen and responds

70
Q

What is a secondary (anamnestic) immune response?

A

On subsequent exposure to an antigen, the memory cells generated in the primary response will respond

71
Q

What is a lag phase?

A

No detectable antibody during this time due to T and B cells processing the antigen

72
Q

How long can a lag phase be in a primary immune response?

A

Days to months; usually 3-4 weeks

73
Q

What immunoglobulin class is produced predominantly in a primary immune response?

A

IgM

74
Q

How long can a lag phase be in a secondary immune response?

A

There can be detectable antibody within hours but usually, it takes 1-2 days

75
Q

What immunoglobulin class is produce predominantly in a secondary immune response?

A

IgG

76
Q

In a secondary immune response, is more or less antigen needed to induce a response?

A

Less

77
Q

What are the functions of immunoglobulins?

A

Bind antigen, facilitate phagocytosis, fix complement and neutralize toxic substances

78
Q

Immunoglobulins make up how much(%) of the total plasma protein in the body?

A

20%

79
Q

What are immunoglobulins composed of?

A

2 identical heavy chains and 2 identical light chains

80
Q

How are immunoglobulins classified?

A

By the structure of their heavy chains

81
Q

What are the heavy chains of immunoglobulins composed of?

A

Approximately <100 amino acids

82
Q

What is the Fab part of an immunoglobulin?

A

Antigen binding sites

83
Q

What is the Fc part of an immunoglobulin?

A

Complement attachment site

84
Q

How do disulphide bonds function on an immunoglobulin?

A

Hold the heavy and light chains together at hinge region

85
Q

How many subclasses does IgG have?

A

4

86
Q

How are IgG subclasses differentiated?

A

Small differences in the heavy chain region of the gamma chain and # of disulfide bonds between heavy chains at hinge

87
Q

Which IgG subclass does not fix complement?

A

IgG-4

88
Q

Which IgG subclass accounts for 65% of total IgG?

A

IgG-1

89
Q

How many subclasses does IgM have?

A

2

90
Q

Which immunoglobulin is predominantly found in secretions?

A

IgA

91
Q

What factors can influence immunogenicity?

A

Size, charge, conformation/complexity, accessibility of antigen, amount of antigen, solubility, chemical composition

92
Q

What is an alloantibody?

A

Produced in response to a foreign antigen

93
Q

What is an autoantibody?

A

Produced in response to self antigens

94
Q

What is an actively acquired antibody?

A

The patient’s own immune system is producing the antibody

95
Q

What is a passively acquired antibody?

A

The antibody entered the patient’s system via placental transfer or transfusion

96
Q

What is the principle of the antiglobulin test?

A

Utilizes AHG reagents to crosslink and connect adjacent red blood cells sensitized with IgG and/or complement

97
Q

What is polyclonal antibody reagent production?

A

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
Q

What is monoclonal antibody reagent production?

A

Antibody producing mouse spleen cells are fused with mouse myeloma cells to produce a hybridoma. These produce a pure uncontaminated source of reagent.

99
Q

What is a polyspecific reagent?

A

Reagents that contain anti-IgG and anti-C3d

100
Q

What is a polyspecific polyclonal reagent?

A

Anti-IgG and anti-C3d; may containg antibodies to other complement proteins

101
Q

What is a polyspecific monoclonal reagent?

A

Blend of either rabbit anti-IgG and monoclonal anti-C3b-C3d OR a blend of monoclonal anti-IgG and monoclonal anti-C3b-C3d

102
Q

What is a monospecific polyclonal reagent?

A

Must contain anti-IgG (against either light or heavy chains) but NO anti-complement

103
Q

What is a monospecific monoclonal reagent?

A

Contains murine monoclonal Anti-IgG only

104
Q

What is a monospecific anti-complement reagent?

A

Antibodies to C3d or C3b or both and NO antibodies against human immunoglobulins

105
Q

What does the Direct Antiglobulin Test look for?

A

Detects IgG and/or complement bound to the red blood cells IN VIVO.

106
Q

What type of AHG reagent must you use for the DAT?

A

Polyspecific reagents must be used

107
Q

What does the Indirect Antiglobulin Test look for?

A

Detects IgG and/or complement bound to the red blood cells in vitro

108
Q

What type of AHG reagent must be used for the IAT?

A

Polyspecific or monospecific reagents may be used.

109
Q

What does in vivo mean?

A

Inside of the body

110
Q

What does in vitro mean?

A

Outside of the body

111
Q

What is the sample required for the DAT?

A

Whole blood in an EDTA tube.

112
Q

What is the sample required for the IAT?

A

Plasma centrifuged in an EDTA tube

113
Q

What type of situations can the DAT be applied?

A

Transfusion reactions, HDFN, Autoimmune hemolytic anemia, drug induced hemolytic anemia and passively acquired antibodies (plasma transfusion)

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