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”
 Heterozygous
- Individual who has inherited different
alleles from each parent, such as AO,AB,BO
- Individual called a HETEROZYGOTE
- “single dose”
• Dosage effect – stronger
agglutination when a red cell
antigen is expressed from a
homozygous genes
 Interaction of genes depending on how they
inherited:
- Cis – same chromosome
- Trans – opposite chromosome
 Trans genes can weaken the expression of the gene
opposite
 Aka POSITIVE EFFECT
Chromosomal Assignment of Blood Systems
 Most of the blood group-associated genes are on
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

 Exchange of genetic material during meiosis after the
chromosome pairs have replicated
 Occurs when the genes on the same chromosome
recombine
 Rare phenomenon but can cause the predicted
inheritance patterns to be changed
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
 Females are always represented by circles
 Mating – line joining a male and female
 Stillbirth or abortion – small black circle
 Deceased family member/s – line across
 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