Basic Genetic Principles in Blood Banking Early Genetics

 Carlos Linnaeus
- Swedish biologist who started the first
classification system of living things in 17 th
century
- Used species as the principle unit of
definition
 Charles Darwin
- “On the Origin of Species”
- Ambition was to understand the diversity of
life
- Natural selection – differential survival of
 Defined as the study of inheritance of the individuals due to differences in phenotypes
transmission of characteristics from parents to
Gregor Mendel’s Law of Inheritance
offspring
 Based on the:
- Biochemical structure of chromatin, which
includes nucleic acids
- Various enzymes that assist in genetic
processes such as replication and division
- Structural proteins that constitute the
genetic material

Blood Group Systems

Inheritance Patterns

 Dominant
- Gene product expressed over another gene
- Written in capital letters (e.g. RR)
 Recessive
- Trait expressed when inherited from both
parents only when the dominant gene is
absent
 Groups of antigen on the red cell membrane that
- Written in small letters (e.g rr)
share related serologic properties and genetic
patterns of inheritance.  Codominant
- Equal expression of both inherited alleles
 Structure and location of antigen present on the red
from parents found on autosomes
cells is what make each blood group system unique.
- Pattern of inheritance in most blood group
Genetic Terminology antigens
- Written in capital letters (e.g. AB)
 Gene – basic unit of inheritance that codes a
particular protein; usually written in Italics Where are genes located?
 Chromosomes – double strands of DNA where • Allele – different forms of a gene
genetic information is carried on. • Antithetical genes
 Allosome – sex chromosome - Meaning opposite
 Autosomes – any other chromosome that is not an - Antigens produced by
allosome alleles
 Meiosis – cell division in gametes - Example: Kp(a) and Kp(b)
 Mitosis – cell division in somatic cells
(alleles)
 Phenotype – physical expression of inherited traits;
determined through hemagglutination - Kp(a) is antithetical to Kp(b)
 Genotype – actual genes inherited from each parent;
determined through family studies or molecular
typing.
Dosage Genetic Interaction

 Homozygous
- Individuals whose genotype is made up of
identical genes, such as AA,BB or OO
- Individual called a HOMOZYGOTE
- “double dose”  Interaction of genes depending on how they
 Heterozygous inherited:
- Individual who has inherited different - Cis – same chromosome
alleles from each parent, such as AO,AB,BO - Trans – opposite chromosome
- Individual called a HETEROZYGOTE  Trans genes can weaken the expression of the gene
- “single dose” opposite
 Aka POSITIVE EFFECT
• Dosage effect – stronger
agglutination when a red cell Chromosomal Assignment of Blood Systems
antigen is expressed from a
 Most of the blood group-associated genes are on
homozygous genes
autosomes, except Xg blood group where the gene is
found on the X chromosome

Suppressor Gene

 Genes that act to inhibit the expression of another

gene produce to a null expression/null phenotype
 Rare occurrence
 Examples:
- In(Jk) gene affects the Kidd blood group
system expression, causing Jk(a-b-)
phenotype Mendelian Principles/ Laws
- In(Lu) gene suppresses the Lutheran blood
group system, resulting in the Lu(a-b)  Independent segregation
phenotype - Passing of one gene from each parent to
offspring
Punnet Square - Refers to the transmission of a trait in a
predictable fashion from one generation to
the next
 Independent assortment
- Random behavior of genes on separate
chromosomes during meiosis that results in
a mixture of genetic material in the
offspring

 Square used to display the frequencies of different

genotypes and phenotypes among the offspring of a
cross
 Illustrates the probabilities of phenotypes from
known or inferred genotypes

Silent Genes

 Also known as Amorphs Exception to the Law of Independent Assortment: Linkage

 Genes that do not produce a detectable antigen and Haplotypes:
product
 These genes produce phenotypes called null types  Linked genes – genes that are very close together on
 Amorphic genes must be inherited from both a chromosome
parents(homozygous) to produce a null phenotype  Haplotype – set of lnked genes inherited together
 Examples: O, Rh(null), Lu (a-b-) because of their close proximity on a chromosome
Exception to the Law of Independent Assortment: Crossing
Over

Pedigree Analysis

 The study of an inherited trait in a group of

related individuals to determine the pattern and
characteristics of the trait, including its mode of
inheritance, age of onset, and phenotypic
variability
 Males are always represented by squares
 Exchange of genetic material during meiosis after the  Females are always represented by circles
chromosome pairs have replicated  Mating – line joining a male and female
 Occurs when the genes on the same chromosome
 Stillbirth or abortion – small black circle
recombine
 Rare phenomenon but can cause the predicted  Deceased family member/s – line across
inheritance patterns to be changed  Propositus – indicated by an arrow pointing to it

Polymorphism Autosomal-Recessive Inheritance

 Refers to having two of more alleles(versions) at a
given locus, as with the ABO blood group system
 Rh Blood Group System is highly prolymorphc thatn
ABO due to the grater number of alleles
 Disadvantage: HLA polymorphism contributes to
challenge of finding suitable donors
 Advantage: can be used in genetic studies or
relationship testing

Dominant X-linked Trait

Relationship Testing: Direct Exclusion

 Direct exclusion – child has inherited a genetic

marker that is not found in the mother or alleged
father
 Obligatory gene – genetic marker passed by the
father to establish probability of paternity

Relationship Testing: Indirect Exclusion

 Indirect exclusion – child lacks the genetic marker

that the father should have given to all of his
offspring
 X-linked Recesive Inheritance

Applications of Molecular Testing in the Blood Bank

What have we learned so far?

 Our knowledge in genetics did not happen

overnight, rather as result of different scientists
interested in species diversity.
 Blood group system antigens have different
inheritance patterns which affect the phenotype
of the offspring
 Having a basic understanding in genetics can be
applied in blood banking to properly analyze
and interpret results
 We can use knowledge in genetics to predict
probabilities in the blood type of offspring
 Molecular studies of genes are important to
solve problems in blood transfusion medicine,
finding suitable organ donors, and in
establishing paternity