Shaira B.

Gorospe
BSMT 4-2
III. GENETICS AND IMMUNOLOGY FOR BLOOD BANKING

GENETICS
A. DEFINITION OF TERMS (1 point each)
Basic physical unit of heredity; a linear sequence of nucleotides
along a segment of DNA that provides the coded instructions for
1. Gene
synthesis of RNA, which, when translated into protein, leads to the
expression of hereditary character.
A mature haploid male or female germ cell that is able to unite with another of the
2. Gamete
opposite sex in sexual reproduction to form a zygote.
One of two or more alternative forms of a gene that arise by mutation and are
3. Allele
found at the same place on a chromosome.
4. Locus Specific location or position of a gene on a chromosome
5. Diploid Cell containing two complete sets of chromosomes, one from each parent.
6. Haploid Cell having a single set of unpaired chromosomes.
7. Genotype The genetic constitution of an individual organism.
The set of observable characteristics of an individual resulting from the interaction
8. Phenotype
of its genotype with the environment.
9. Homozygous Gene that has identical alleles on both homologous chromosomes.
10. Heterozygous Having one each of two different alleles.
11. Homozygote Organism with identical pairs of genes (or alleles) for a specific trait.
Having two different alleles of a particular gene or genes, and so giving rise to
12. Heterozygote
varying offspring.
Allele or gene that is expressed in an organism's phenotype, masking the effect of
13. Dominant
recessive allele or gene when present
A form of dominance in which the alleles of a gene pair in heterozygote are fully
14. Codominant expressed thereby resulting in offspring with a phenotype that is neither dominant
nor recessive.
15. Incomplete Refers to a genetic situation in which one allele does not completely dominate
dominance another allele, and therefore results in a new phenotype.
Relating to or denoting heritable characteristics controlled by genes that are
16. Recessive expressed in offspring only when inherited from both parents, i.e., when not
masked by a dominant characteristic inherited from one parent.
17. Silent genes Regulation of gene expression in a cell to prevent the expression of a certain gene.
The study of an inherited trait in a group of related individuals to determine the
18. Pedigree
pattern and characteristics of the trait, including its mode of inheritance, age of
analysis
onset, and phenotypic variability.
The two-carbon nitrogen ring bases (adenine and guanine). Nitrogenous bases that
19. Purines
make up the two different kinds of nucleotide bases in DNA and RNA.
One-carbon nitrogen ring bases (thymine and cytosine). Nitrogenous bases that
20. Pyrimidines
make up the two different kinds of nucleotide bases in DNA and RNA.
Shaira B. Gorospe
BSMT 4-2
Segment of a DNA or RNA molecule containing information coding for a protein
21. Exon
or peptide sequence.
Segment of a DNA or RNA molecule that does not code for proteins and interrupts
22. Intron
the sequence of genes.
Study of genetic variation within populations, and involves the examination and
23. Population
modelling of changes in the frequencies of genes and alleles in populations over
genetics
space and time.
The exact copy resulting from self-replication of genetic material, a cell, or an
24. Replication
organism.

Short, newly synthesized DNA fragments that are formed on the lagging template
25. Okazaki
strand during DNA replication. They are complementary to the lagging template
fragments
strand, together forming short double-stranded DNA sections.

Any of several mechanisms by which a cell maintains the integrity of its genetic
code. DNA repair ensures the survival of a species by enabling parental DNA to be
26. Repair
inherited as faithfully as possible by offspring. It also preserves the health of an
individual.
The changing of the structure of a gene, resulting in a variant form that may be
transmitted to subsequent generations, caused by the alteration of single base units
27. Mutations
in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or
chromosomes.
28. Mutagens An agent, such as radiation or a chemical substance, that causes genetic mutation.
Mutation that exchanges one base for another Such a substitution could: change a
29. Substitution codon to one that encodes a different amino acid and cause a small change in the
protein produced. ... These are called silent mutations.
A point mutation that changes a purine nucleotide to another purine (A G) or a
30. Transition
pyrimidine nucleotide to another pyrimidine (C T).
Interchanges of purine for pyrimidine bases, which therefore involve exchange
31. Transversion
of one-ring and two-ring structures.
It is a genetic mutation caused by a deletion or insertion in a DNA sequence that
32. Frameshift
shifts the way the sequence is read. A DNA sequence is a chain of many smaller
mutation
molecules called nucleotides.
33. Transcription The process by which DNA is copied to RNA .
34. Translation Process by which RNA is used to produce proteins.
35. Suppressor Normal genes that slow down cell division, repair DNA mistakes or tell cell when
genes to die.
Shaira B. Gorospe
BSMT 4-2
B. STATE, EXPLAIN and ILLUSTRATE the LAWS of INHERITANCE (5 points each)

1. Law of Independent/Random Segregation

It states that allele pairs separate or segregate during gamete formation so that offspring
acquire one factor from each parent and randomly unite at fertilization.

Example: The gene for seed color in pea plants exists in two forms. There is one form or
allele for yellow seed color (Y) and another for green seed color (y). In this example, the allele
for yellow seed color is dominant and the allele for green seed color is recessive. When the
alleles of a pair are different (heterozygous), the dominant allele trait is expressed and the
recessive allele trait is masked. Seeds with the genotype of (YY) or (Yy) are yellow, while seeds
that are (yy) are green.

2. Law of Independent Assortment

It states that allele pairs separate independently during

the formation of gametes. This means that traits are transmitted
to offspring independently of one another.

Example: Two pea plants has a characteristics of seed

color and seed texture: one that has green, wrinkled seeds (yyrr)
and another that has yellow, round seeds (YYRR). Because
each parent is homozygous, the law of segregation indicates
that the gametes for the green/wrinkled plant all are yr, while
the gametes for the yellow/round plant are all YR. Therefore,
the F1 generation of offspring all are YyRr.

3. Linkage
It is the tendency of DNA sequences that are close together on a chromosome to be
inherited together during the meiosis phase of sexual reproduction. The nearer two genes are on a
chromosome, the lower the chance of recombination between them, and the more likely they are
to be inherited together. Markers on different chromosomes are perfectly unlinked.

C. STATE and EXPLAIN the HARDY-WEINBERG PRINCIPLE (3 points)

Example: What will the percentage be in future generations of a large group of beetles, 86%
of which are green, 14% are brown.
The Hardy-Weinberg equilibrium gives us a tool to observe how populations evolve (or
don't). It states that the frequencies of alleles and genotypes will stay the same through the
generations as long as there are no evolutionary influences. In other words, our beetles will stay
86% green over time as long as the following requirements are met:

1. Mating must be random

2. Population size must be large, so one individual isn't accounting for a significant portion
of the gene pool
Shaira B. Gorospe
BSMT 4-2
3. No migration, meaning individuals can't be entering or leaving the population

4. No random mutations in the genes being studied

5. No natural selection on the genes being studied

As long as our beetles follow these tenets, they will be in a Hardy-Weinberg equilibrium.

D. ANSWER the FOLLWING PROBLEMS USING the HARDY-WEINBERG FORMULA: (2

points each) *Show your solutions.

1. In a population of birds, the feathers with color black (B) is dominant over brown (b). Knowing
that 40% of the birds have brown color, compute for the:
a. Frequency of the homozygous black birds

b. Frequency of the heterozygous black birds

c. Percentage of the black birds

2. Out of 50 horses, 48 of them are black while the rest are blue. If the blue horses represent
the frequency of homozygous recessive population, compute for the:
a. Frequency of the dominant allele

b. Frequency of the recessive allele

c. Frequency of the homozygous black horses

3. In a population of 100 students, 8 students are very indolent. If the reason for these traits are
purely genetic, and indolence is a recessive allele, compute for the:
a. Frequency of the dominant allele

b. Frequency of the recessive allele

Shaira B. Gorospe
BSMT 4-2

c. Frequency of the homozygous industrious students

d. Frequency of the heterozygous industrious students

E. DRAW and INTERPET the SYMBOLS USED in a PEDIGREE ANALYSIS (1 point each)
1. Squares - males
2. Circles - females
3. Horizontal line between a square and a circle- mating
4. Vertical line - offspring
5. Double horizontal line between a square and a circle consanguineous mating
6. Small black circle/square abortion/stillbirth
7. Line crossing the circle/square - deceased
8. Arrow pointing to a circle/square proband/propositus/ starting point of genetic study
9. Shaded circle/square affected with trait/ family history
10. Half of square/circle is shaded carrier for autosomal trait
11. Square/circle not shaded - normal
12. Shaded square/circle within a square/circle carrier for sex-linked( X/Y) trait

F. IDENTIFY the 4 PATTERNS of INHERITANCE, then DRAW a PEDIGREE ANALYSIS (with 3

generations, at least 4
members each generation) for
EACH PATTERN. (5 points each)

1. Autosomal Dominant
Inheritance
Shaira B. Gorospe
BSMT 4-2
2. Autosomal Recessive Inheritance

3. X-linked Dominant Inheritance

4. X-linked Recessive Inheritance

Shaira B. Gorospe
BSMT 4-2
G. MATCH the STAGE of MEIOSIS/MITOSIS to its DESCRIPTION. Write on the 2nd blank if the
number of chromosomes during the stage is N, 2N or 4N. (2 points each)

Meiosis
E 1. Interphase I 2N A. Products are 2 diploids
D 2. Prophase I 4N B. Product s are 2 haploids (gametes)
C 3. Metaphase I 4N C. Pairs are aligned
F 4. Anaphase I 4N ;;D. Visible and condensed chromosomes
A 5. Telophase I 2N ;;E. DNA replication; RNA & protein
I 6. Metaphase II 2N synthesis
H 7. Anaphase II N F. Pairs migrate to opposite poles
B 8. Telophase II N G. Chromosome pairs at poles, then cell
G 9. Meiosis I divides
J 10. Meiosis II H. Pair migrates to opposite poles
I. Pair is aligned
J. Chromosome pair at poles, then cell
divides

Mitosis
C 1. Interphase I 2N A. Pairs migrate to opposite poles
B 2. Prophase I 4N B. Visible and condensed chromosomes
E 3. Metaphase I 4N C. DNA replication; RNA & protein synthesis
A 4. Anaphase I 4N D. Chromosome pairs at poles, then cell
D 5. Telophase I 2N divides
E. Pairs are aligned
Shaira B. Gorospe
BSMT 4-2
IMMUNOLOGY
A. DEFINITION OF TERMS (1 point each)
a toxin or other foreign substance that induces an immune response in the body,
1. Antigen
especially the production of antibodies.
any antigen that is capable of inducing humoral and/or cell-mediated immune
2. Immunogen
response rather than immunological tolerance.
3. Epitope part of an antigen molecule to which an antibody attaches itself.
a small molecule that, when combined with a larger carrier such as a protein, can
4. Hapten elicit the production of antibodies that bind specifically to it (in the free or
combined state).
macromolecular substance to which a hapten is coupled in order to produce an
5. Carrier
immune response against the hapten.
any of a class of proteins present in the serum and cells of the immune system,
6. Immunoglobulin
that function as antibodies.
a blood protein produced in response to and counteracting a specific antigen. It
7. Antibody combine chemically with substances that the body recognizes as alien, such as
bacteria, viruses, and foreign substances in the blood.
part of the immune system that enhances (complements) the ability of antibodies
8. Complement
system
and phagocytic cells to clear microbes and damaged cells from an organism,
promotes inflammation, and attacks the pathogen's plasma membrane.

measure of the interaction between an antigen binding site of the antibody and an
9. Affinity
epitope of the antigen.

10. Avidity measure of the overall strength of the binding between the antigens and antibody.

measures the degree to which the immune system differentiates between

11. Specificity
different antigens.
12 Cross- measures the extent to which different antigens appear similar to the
reactivity immune system.
The relative capability of a substance (e.g. antibody) to act upon, react, or bind
13. Valency with a biological substrate (e.g. antigen); the number of antigen binding sites that
an antibody has, or the number of antigenic determinants an antigen has.
failure to mount an immune response to an antigen. It can be: Natural or
"self" tolerance. This is the failure (a good thing) to attack the body's own
14. Tolerance
proteins and other antigens. If the immune system should respond to "self", an
autoimmune disease may result.
An antigen will react with its specific antibody to form an Ag-Ab complex. As
15. Zone of
equivalence
more antigens are added, the amount of protein precipitated increases until the
antigen/antibody molecules are at an optimal ratio.
Shaira B. Gorospe
BSMT 4-2
false negative response resulting from high antibody titer which interferes with
16. Pro-zone formation of antigen- antibody lattice, necessary to visualize a positive
flocculation test.
refers to the absence of antibody-antigen precipitation in the presence of antibody
17. Post-zone
excess.
18. state in which the immune system's ability to fight infectious disease and cancer
Immunodeficiency is compromised or entirely absent.
19. a set of undesirable reactions produced by the normal immune system, including
Hypersensitivity allergies and autoimmunity.
A misdirected immune response that occurs when the immune system goes awry
20. Autoimmunity
and attacks the body itself.
"immunoglobulin (a.k.a. antibody) isotype" refers to the slight phenotypic
21. Isotype variations within the immunoglobulin gene family that encode for variant
immunoglobulin heavy chains and immunoglobulin light chains.
22. Allotype allele of the antibody chains found in the individual.
shared characteristic between a group of immunoglobulin or T cell receptor
23. Idiotype (TCR) molecules based upon the antigen binding specificity and therefore
structure of their variable region.

B. DRAW and LABEL the PARTS of the ANTIBODY. DESCRIBE/GIVE the PURPOSE of EACH
PART. (20 points total)

1. Domain 6. Hinge region

2. Heavy chain 7. Fab
3. Light chain 8. Fc
4. Constant region 9. J chain
5. Variable region 10. Secretory piece
C. COMPLETE the TABLES.
1. Immunoglobulin Isotypes (40 points)
IgG IgA IgM IgD IgE
% abundance in blood
Form/s in blood (Monomer,
dimer, etc.)
Protein attachments (J
piece, secretory chain)
Number of allotypes
Distribution (In which body
fluids/parts is it found)
Complement Activation
Placental Transfer
Colostrum
Opsonin
*For Complement activation to Opsonin, just answer Yes or No.

2. IgG Allotypes (12 points)

IgG1 IgG2 IgG3 IgG4
% abundance in blood
Complement binding
Placental transfer
*For complement fixation and placental transfer, just answer Yes or No.

3. Complement System (6 points)

Classical Alternative Lectin
Activated by:

Proenzymes present

4. Primary and Secondary Immune Response (10 points)

 Primary Secondary
Response on (first exposure
or second and succeeding
exposure)
Lag phase (# of days)
Peak response
(Large or small)
Antibody isotype

Antibody affinity
(High or low)

D. DIFFERENTIATE the FOLLOWING ANTIBODIES: (2 points each)

1. Polyclonal vs. Monoclonal

A Polyclonal Antibody represents a collection of antibodies from different B cells that
recognize multiple epitopes on the same antigen. Each of these individual antibodies recognizes
a unique epitope that is located on that antigen while, Monoclonal Antibody represents antibody
from a single antibody producing B cell and therefore only binds with one unique epitope.

2. Naturally Occurring vs. Immune

Naturally occurring antibodies are produced in response to substances in environment
that resembles RBC antigen such as pollen grains and bacteria membranes while Immune
antibodies are produced in response to the introduction of antigens to the immune system.

3. Alloantibody vs. Autoantibody

Alloantibodies is Produced by exposure to foreign red cell antigens which are non-self
antigens but are of the same species. They react only with allogenic cells. Exposure occurs
through pregnancy or transfusion, while Autoantibodies is Produced in an autoimmune process
and directed against one's own red cell antigens.
E. ENUMERATE.
1. Laboratory Methods Used in Detecting Antigen-Antibody Reactions (8 points)
a.
b.
c.
d.
e.
f.
g.
h.
2. Factors Influencing Agglutination Reactions (6 points)
a.
b.
c.
d.
e.
f.

3. Immunological Disease Important in Blood Banking (5 points)

a.
b.
c.
d.
e.
f.