GENETICS

 It is the study of inheritance – the transmission of characteristics from parents to offspring.

 Is the scientific study of heredity.
 Study how traits and disease are passed from generation to generation.

DEFINITION OF TERMS

 Gene – the fundamental units of heredity and the basic structural and functional units of
genetics.
 Mendel call genes as “factors”
 Determine the traits that can be present but not expressed.
 Dominant traits – the traits expressed in the F1(heterozygous) condition.
 Recessive traits – The trait unexpressed in the F1 but re-expressed in some members of the F2
generation.
 Phenotype – the observable properties of an organisms.
 Genotype – the specific genetic constitution of an organism.
 Segregation – the separation of members of a gene pair from each other during gamete
formation.
 Allele – one of the possible alternative forms of a gene, usually distinguished from other alleles
by its phenotypic effects.
 Homozygous – having identical alleles for one or more genes.
 Heterozygous – carrying two different alleles for one or more genes.

GREGOR MENDEL

 An Austrian monk, experimented with pea plants to study physical traits and how they are
inherited.
o Mendelian Laws:
- Law of Independent Segregation
- Law of Independent Assortment
 Studied the inheritance of shape.
 Experimental Specimen: Peas.
 Smooth shaped peas crossed with wrinkled shaped peas.

 LAW OF INDEPENDENT SEGREGATION

 Gene exist in pairs and there must be only one gene to exist, to prevent gene number in
doubling in each succeeding generation.
 Individual traits are inherited separately from one generation.
 Alleles of genes have no permanent effect on each other when present in the same organism,
but segregate unchanged by passing into different gametes
LAW OF INDEPENDENT ASSORTMENT

 Genes for different traits are inherited separately from each other; allows possible combinations
of genes to the offspring.
 Members of one gene pair separate from one another independently of the member of other
gene pairs.
 The random distribution of alleles into gametes during meiosis.
 Smooth – dominant; Wrinkled – recessive
 Yellow – dominant; green – recessive

VARIATIONS ON A THEME BY MENDEL

1. Incomplete dominance

➢ Expression of a phenotype that is intermediate to those of the parents.

2. Codominant alleles

➢ Full phenotypic expression of both members of a gene pair in the heterozygous condition.

3. Genes have more than two alleles

CELL DIVISION

 Dividing cells are needed in order to study chromosomes.

 Cytogenetic abnormalities result from errors in cell division

2 types:

 MITOSIS – Division of somatic cells

 MEIOSIS - division that occurs only on gametes (sex cells)

IMMUNOLOGY IN BLOOD BANKING

IMMUNE SYSTEM:

 Immunology is both the study of the human immune system and the field of medicine that
treats diseases of the immune system.
 Immunity is a process by which a host organism protects itself from attacks by external and
internal agents.
MAJOR MECHANISM OF IMMUNE SYSTEM

 Innate or Natural immunity

➢Primary lines of defense

➢Non-specific

 Natural – present at birth

 Immediately available
 Maybe physical, biochemical, mechanical or a combination of defense
mechanism.

➢Does not alter on repeated exposure to any specific Ag.

 ❖Acquired or Adaptive Immunity

 Supplements protection provided by innate immunity.
 Later evolutionary development – seen only in vertebrates.
 Specific
 Specialized
 Acquired by contact with a specific foreign substance.
 Initial contact with foreign substance triggers synthesis of specialized Ab proteins
resulting in reactivity to that particular foreign substance.

IMMUNOGLOBULINS:

 Also called Antibody.

 Complex protein produced by plasma cells with specificity to Ag’s that stimulate their
production.
 A specific self protein produced by the host in response to specific, foreign, non self protein or
other complex molecule not tolerated by the host.
 Ig are classified according to the molecular structure of their heavy
 chains:
➢IgA
➢IgD
➢IgE
➢IgG
➢IgM

IMMUNOGLOBULINS:

 Immuno- function.
 Globulin- type of globular soluble protein found in the gamma globulin portion of serum or
plasma.
 Most important factor in Humoral immunity.
 Classified according to the molecular structure of their heavy chains

 IgG is the most concentrated in serum – 80% of the total serum

  IgA – 13% it is the major Ig found in body secretions
 IgM – 6%
 IgD – 1%
 IgE – less than 1%
 CHARACTERISTIC OF ANTIGEN:
 Can initiate formation of and react with an antibody
 Usually detected in blood bank.
 Immunogen – can initiate an immune response to the immune system.
 Hapten
 an immunogen that has a MW of < 10,000 Daltons
 do not elicit an immune response; molecules that are too small cannot stimulate
antibody production.
 when coupled with carrier protein having a MW > 10,000 daltons can produce a reaction

SIGNIFICANT ANTIBODIES IN BLOOD BANK

 IgG, IgM and IgA are the most significant Ab encountered in BB.
 Clinically significant Abs reacts at 37 degree Celsius – IgG isotype capable of destroying
transfused Ag-positive RBC.
 Naturally-occurring Abs reacts at 22 degree Celsius – IgM isotype produced in response to
naturally occurring antigens (intestinal flora and pollen grains).

SIGNIFICANT ANTIBODIES IN BLOOD BANK

 IgG
- causes anemia and transfusion reactions, most IgG are clinically significant and are
immune antibodies
 IgM
- Problem with IgM Ab is that they can interfere with the detection of clinically significant
IgG Ab by masking their reactivity.
- Unlike IgG, IgM exists in both monomeric and polymeric forms.
- Most IgM are naturally occurring
 IgA
- 30% of Anti-A and Anti-B is of the IgA class (the remaining percentage are for IgG and
IgM)
- Anti-IgA can cause severe problems if transfused in plasma products to patients who
are deficient in IgA result to fatal anaphylaxis
- IgA- can also increase the effect of IgG induced RBC hemolysis
 IgE
- found in monomeric form in trace concentration in serum about 0.004% of total Ig and
is important in allergic reactions, causes transfusion reaction by release of histamines
(Ex. Urticaria)
 IgD
 - least significant for blood banking; present in <1%- appears to have functions that deal
primarily with maturation of B cells into plasma cells, regulatory role during B cell
differentiation and antibody production.

CHARACTERISTIC OF BLOOD GROUP ANTIBODIES:

ZETA POTENTIAL

 The net negative charge surrounding RBCs (and most other human cells) in a cationic media is
part of the force that repels RBCs from each other and is due to sialic acid molecules on the
surface of RBCs.
 Most acids have a negative charge, and the large concentration of these molecules on RBCs
creates a “zone” of negative charge around the RBC.
 This zone is protective and keeps RBCs from adhering to each other in the peripheral blood. A
potential is created because of the ionic cloud of cations (positively charged ions) that are
attracted to the zone of negative charges on the RBC membrane.
 Reducing the zeta potential allows the more positively charged antibodies to get closer to the
negatively charged RBCs and therefore increases RBC agglutination by IgG molecules.

POTENTIATORS/ENHANCEMENT MEDIA

POTENTIATORS/ENHANCEMENT MEDIA

 Albumin and PEG are under colloids or proteins-its function is to enhance/increase the dielectric
constant (measure of electrical conductivity) and reduce zeta potential. PEG is more effective in
detection of weak antibodies and reduction in false positive or nonspecific reactions.
 Enzymes are very effective in cases in which there are multiple antibodies present in a sample.
Also enzymes removes hydropilic glycoproteins from the RBC membrane causing the membrane
to become more hydrophobic which would allow RBC to come closer together and antibodies
may no longer be subject to physical obstruction and steric hindrance from reacting with RBC.
 Direct antiglobulin test (DAT): AHG added to washed RBC’s.
 Indirect antiglobulin test (IAT): serum+screen cells; Incubation @ 37 degree Celsius time
depends upon the additive used; cell washing; before addition of AHG.
FACTORS ANTIGEN-ANTIBODY REACTIONS:

 Intermolecular binding forces

- Ionic bonds, Hydrogen bonds, Hydrophobic bonds, Van der Waals forces
 Antibody properties
- AFFINITY: initial force of interaction that exists between a single fab site on an antibody
molecule and single epitope or determinant site on the corresponding antigen.
- AVIDITY: sum/strength of all attractive forces between an antigen and an antibody
 Host factors
- nutritional status, hormones, genetic inheritance, age, race, sex, physical activity, and
environmental exposure, occurrence of disease or injury.
 Tolerance

DETECTION OF RBC-ANTIGEN ANTIBODY REACTIONS

 AGGLUTINATION
- process by which particulate antigens such as cells aggregate to form large complexes
when a specific antibody is present.
- HEMAGGLUTINATION → Antigen is found on red cells
- HAS TWO PHASES:
 Sensitization → antigen binding to the antibody (epitopes on the RBC
membrane binds with the Fab region of the antibodies), no visible agglutination
 Lattice-formation → multiple antigen-antibody bridges RBC antigens and
antibodies is formed; with visible agglutination.
 HEMOLYSIS
- Disruption of the red blood cell membrane and the subsequent release of hemoglobin
into the suspending medium or plasma.