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ABO BLOOD GROUP SYSTEM
(A CASE OF MULTIPLE
ALLELISM)
-HARJINDER SINGH
2
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Sub. : Botany
Class : MSc. 2nd
Sem.
Paper: Genetics,
Cytogenetics and Plant
Breeding
Course: VII (H- 2003)
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MULTIPLE ALLELES
Genes which have more than two alleles.
About 30% of the genes in humans are di-allelic,
that is they exist in two forms, (they have two
alleles)
About 70% are mono-allelic, they only exist in one
form and they show no variation
A very few are poly-allelic having more than two
forms.
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Combinations
 Di-allelic genes can generate 3 genotypes
 Genes with 3 alleles can generate 6 genotypes
(3+2+1)
 Genes with 4 alleles can generate 10 genotypes
 Genes with 8 alleles can generate 36 genotypes
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Genes and the immune system
 Poly-allelic alleles are usually associated with
tissue types
 These genes are so varied that they provide us
with our genetic finger print
 This is very important to our immune system
which must tell the difference between our
own cells (self) and invading disease causing
microbes (non-self)
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The ABO blood system
 This is a controlled by a tri-allelic gene
 It can generate 6 genotypes
 The alleles control the production of antigens
on the surface of the red blood cells
 Two of the alleles are codominant to one
another and both are dominant over the third
 Allele IA
produces antigen A
 Allele IB
produces antigen B
 Allele i produces no antigen
The ABO blood system
Genotypes Phenotypes (Blood types)
IA
IA
A
IA
IB
AB
IA
i A
IB
IB
B
IB
i B
ii O
 Note:
 Blood types A and B have two possible genotypes –
homozygous and heterozygous.
 Blood types AB and O only have one genotype each.
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ABO BLOOD GROUP
SYSTEM
The ABO blood group system is the
most important blood group system in
human blood transfusion.
Found on platelets, epithelium and cells other
than erythrocytes, AB antigens can also cause an
adverse immune response to organ transplantation. The
associated anti-A and anti-B antibodies are
usually IgM antibodies, which are produced in the first
years of life by sensitization to environmental
substances, such as food, bacteria, and viruses.
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 Karl Landsteiner discovered the
ABO Blood Group System in 1901.
 Adriano Sturli and Alfred
von Decastello
who were working under Landsteiner discovered type AB a year later in
1902. Landsteiner was awarded the 1930 Nobel Prize in Physiology or
Medicine for his work.
Landsteiner Rule:If an antigen is present on a patients red blood cells (RBCs) the
corresponding antibody will NOT be present in the patients plasma, under
‘normal conditions’.
Karl Landsteiner
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10
Janský is credited with the first classification of blood
into the four types (A, B, AB, O) in 1907, which remains in
use today.
Reuben Ottenberg successfully transfused blood between
two people at Mount Sinai Hospital in New York. He was
the first person to record pre-transfusion testing for blood
compatibility in a clinical setting.
Later in 1954 he was the first to be awarded with Karl
Landsteiner Award H singh
11
ABO BASICS
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Based on the presence or absence of antigen A and antigen B, blood
is divided into four groups:
‘A, B, AB and ‘O’ group.
Blood having antigen A belongs to ‘A’ group. This blood has β-
antibody in the serum.
Blood with antigen B and α-antibody belongs to ‘B’ group.
If both the antigens are present, blood group is called ‘AB’ group
and serum of this group does not contain
any antibody.
If both antigens are absent, the blood group is called ‘O’ group and
both α and β antibodies are present in the serum
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ABO blood group antigenspresent on red
blood cells
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H
SUBSTANCE
Hgene(FUT1 gene)leadstoproductionof an enzyme α-2-L-
Fucosyltransferase which transfers fucose tothe terminalgalactose
ofthe precursorGlucoseGalactoseN- acetylglucosamineGalactose
RBC Fucose
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The A gene codes for an enzyme that adds
GalNAc (N-Acetyl-D galactosamine) to
the terminal sugar of the H Antigen.
This biochemical structure constitutes the A antigen.
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B gene codes for an enzyme that adds D-Galactose to the
terminal sugar of the H Antigen.
This biochemical structure constitutes the B Antigen.
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Aand B
are co-
dominant
giving the
AB
phenotype
.
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BLOOD GROUP INHERITANCE
37
Blood transfusion
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Introduction
 Precautions
Adverse effect Of Blood Transfusion
Exchange Transfusion
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Blood transfusion is the process of transferring
blood or blood components from one person (the
donor) into the bloodstream of another person (the
recipient).
Richard Lower pioneered the first blood
transfusion from animal to human in 1665 at
the Royal Society.
In 1840 Dr. Blundell, performed the first
successful whole blood transfusion to
treat haemophilia.
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IMPORTANCE OFABO GROUPS
IN BLOOD TRANSFUSION
During blood transfusion, only compatible blood must
be used.
The one who gives blood is called the ‘donor’ and the
one who receives the blood is called ‘recipient’.
While transfusing the blood, antigen of the donor and
the antibody of the recipient are considered.
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The antibody of the donor and antigen of the
recipient are ignored mostly.
Thus, RBC of ‘O’ group has no antigen and so
agglutination does not occur with any other group
of blood. So, ‘O’ group blood can be given to any
blood group persons and the people with this blood
group are called ‘universal donors’.
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Plasma of AB group blood has no antibody. This does
not cause agglutination of RBC from any other
group of blood.
People with AB group can receive blood from any
blood group persons. So, people with this blood
group are called ‘universal recipients’.
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In mismatched transfusion,
the transfusion reactions occur between
donor’s RBC and recipient’s plasma.
So, if the donor’s plasma contains
agglutinins against recipient’s RBC,
agglutination does not occur because
these antibodies are diluted in the
recipient’s blood.
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Adverse effect of Blood transfusion
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Acute hemolytic reaction Delayed hemolytic
reaction Allergic reaction
Post-transfusion purpura
Transfusion associated acute lung injury HIV
Hepatitis C
Transfusions of blood products are
associated with several complications,
many of which can be grouped as
immunological or infectious such as:
44
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The Rh blood group system is one of thirty-
five current human blood group systems.
It is the most important blood group system
after ABO.
Rh blood group system consists of 50 defined
blood-group antigens, among them there are
six common types of Rh antigens.
Each of which is called an Rh factor.
•These types are designated C,D, E, c, d, and e.
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The type D antigen is widely prevalent in the
population and considerably more antigenic than
the other Rh antigens.
Anyone who has this type of antigen is said to be
Rh positive, whereas a person who does not have
type D antigen is said to be Rh negative.
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•This antigen was discovered by Karl
Landsteiner and Alexander Wiener in 1940.
•It was first discovered in Rhesus macaque and
hence the name 'Rh factor’.
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Erythroblastosis Fetalis (“Hemolytic Disease of the Newborn”)
Erythroblastosis fetalis is a disease of the fetus and
newborn child characterized by agglutination and
phagocytosis of the fetus’s red blood cells.
In most instances of erythroblastosis fetalis, the
mother is Rh negative and the father Rh positive.
The baby has inherited the Rh-positive antigen from the
father, and the mother develops anti-Rh agglutinins
from exposure to the fetus’s Rh antigen.
In turn, the mother’s agglutinins diffuse through the
placenta into the fetus and cause red blood cell
agglutination.
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•Symptoms and signs in the newborn:
• Anemia that creates the newborn's pallor
(pale appearance).
• Jaundice or yellow discoloration of the
newborn's skin, sclera or mucous
membrane.
• Enlargement of the newborn's liver and
spleen.
•Severe edema of the entire body.
•Dyspnea or difficulty breathing.
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Thirty-five major blood group systems were
recognized by the International Society of Blood
Transfusion (ISBT) in October 2012.
In addition to the ABO antigens and Rhesus
antigens, many other antigens are expressed on
the red blood cell surface membrane.
OTHER BLOOD GROUPS
aa
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An individual can be AB Rh D positive, and at
the same time M and N positive (MNS system),
K positive (Kell system), and Lea or
•Leb positive (Lewis system). Many of the
blood group systems were named after the
patients in whom the corresponding antibodies
were initially encountered.
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Other blood groups include
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 Auberger groups
 Diego group
 Bombay group
 Duffy group
 Lutheran group
 P group
 Kell group
 I group
 Kidd group
 Sulter Xg group
 Kidd group
 Duffy group
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BOMBAY
GROUP
• The h/h blood group, also known as Oh [
or theBombay
blood group,is a rare blood type.This blood [phenotype]was
first discovered in Bombay, now known
• as Mumbai, by Dr. Y
.M.Bhendein 1952.
• The Hh blood group containsone antigen, theHantigen,which is
found on virtually all RBCs and is the building block for the
productionof the antigens within the ABO blood group.
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THANKS…….

ABO BLOOD GROUP SUSTEM e content.pptx, Harjinder Singh

  • 1.
    H singh 1 ABOBLOOD GROUP SYSTEM (A CASE OF MULTIPLE ALLELISM) -HARJINDER SINGH
  • 2.
    2 H singh Sub. :Botany Class : MSc. 2nd Sem. Paper: Genetics, Cytogenetics and Plant Breeding Course: VII (H- 2003)
  • 3.
    H singh 3 MULTIPLEALLELES Genes which have more than two alleles. About 30% of the genes in humans are di-allelic, that is they exist in two forms, (they have two alleles) About 70% are mono-allelic, they only exist in one form and they show no variation A very few are poly-allelic having more than two forms.
  • 4.
    H singh 4 Combinations Di-allelic genes can generate 3 genotypes  Genes with 3 alleles can generate 6 genotypes (3+2+1)  Genes with 4 alleles can generate 10 genotypes  Genes with 8 alleles can generate 36 genotypes
  • 5.
    H singh 5 Genesand the immune system  Poly-allelic alleles are usually associated with tissue types  These genes are so varied that they provide us with our genetic finger print  This is very important to our immune system which must tell the difference between our own cells (self) and invading disease causing microbes (non-self)
  • 6.
    H singh 6 TheABO blood system  This is a controlled by a tri-allelic gene  It can generate 6 genotypes  The alleles control the production of antigens on the surface of the red blood cells  Two of the alleles are codominant to one another and both are dominant over the third  Allele IA produces antigen A  Allele IB produces antigen B  Allele i produces no antigen
  • 7.
    The ABO bloodsystem Genotypes Phenotypes (Blood types) IA IA A IA IB AB IA i A IB IB B IB i B ii O  Note:  Blood types A and B have two possible genotypes – homozygous and heterozygous.  Blood types AB and O only have one genotype each. 7 H singh
  • 8.
    H singh 8 ABOBLOOD GROUP SYSTEM The ABO blood group system is the most important blood group system in human blood transfusion. Found on platelets, epithelium and cells other than erythrocytes, AB antigens can also cause an adverse immune response to organ transplantation. The associated anti-A and anti-B antibodies are usually IgM antibodies, which are produced in the first years of life by sensitization to environmental substances, such as food, bacteria, and viruses.
  • 9.
    9  Karl Landsteinerdiscovered the ABO Blood Group System in 1901.  Adriano Sturli and Alfred von Decastello who were working under Landsteiner discovered type AB a year later in 1902. Landsteiner was awarded the 1930 Nobel Prize in Physiology or Medicine for his work. Landsteiner Rule:If an antigen is present on a patients red blood cells (RBCs) the corresponding antibody will NOT be present in the patients plasma, under ‘normal conditions’. Karl Landsteiner H singh
  • 10.
    10 Janský is creditedwith the first classification of blood into the four types (A, B, AB, O) in 1907, which remains in use today. Reuben Ottenberg successfully transfused blood between two people at Mount Sinai Hospital in New York. He was the first person to record pre-transfusion testing for blood compatibility in a clinical setting. Later in 1954 he was the first to be awarded with Karl Landsteiner Award H singh
  • 11.
    11 ABO BASICS H singh Basedon the presence or absence of antigen A and antigen B, blood is divided into four groups: ‘A, B, AB and ‘O’ group. Blood having antigen A belongs to ‘A’ group. This blood has β- antibody in the serum. Blood with antigen B and α-antibody belongs to ‘B’ group. If both the antigens are present, blood group is called ‘AB’ group and serum of this group does not contain any antibody. If both antigens are absent, the blood group is called ‘O’ group and both α and β antibodies are present in the serum
  • 12.
    H singh 12 ABOblood group antigenspresent on red blood cells
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    H singh 24 H SUBSTANCE Hgene(FUT1gene)leadstoproductionof an enzyme α-2-L- Fucosyltransferase which transfers fucose tothe terminalgalactose ofthe precursorGlucoseGalactoseN- acetylglucosamineGalactose RBC Fucose
  • 25.
  • 26.
    H singh 26 TheA gene codes for an enzyme that adds GalNAc (N-Acetyl-D galactosamine) to the terminal sugar of the H Antigen. This biochemical structure constitutes the A antigen.
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    H singh 27 Bgene codes for an enzyme that adds D-Galactose to the terminal sugar of the H Antigen. This biochemical structure constitutes the B Antigen.
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    H singh 35 AandB are co- dominant giving the AB phenotype .
  • 36.
    H singh 36 BLOODGROUP INHERITANCE
  • 37.
    37 Blood transfusion H singh3 7 Introduction  Precautions Adverse effect Of Blood Transfusion Exchange Transfusion
  • 38.
    38 Blood transfusion isthe process of transferring blood or blood components from one person (the donor) into the bloodstream of another person (the recipient). Richard Lower pioneered the first blood transfusion from animal to human in 1665 at the Royal Society. In 1840 Dr. Blundell, performed the first successful whole blood transfusion to treat haemophilia. H singh
  • 39.
    39 IMPORTANCE OFABO GROUPS INBLOOD TRANSFUSION During blood transfusion, only compatible blood must be used. The one who gives blood is called the ‘donor’ and the one who receives the blood is called ‘recipient’. While transfusing the blood, antigen of the donor and the antibody of the recipient are considered. H singh
  • 40.
    40 The antibody ofthe donor and antigen of the recipient are ignored mostly. Thus, RBC of ‘O’ group has no antigen and so agglutination does not occur with any other group of blood. So, ‘O’ group blood can be given to any blood group persons and the people with this blood group are called ‘universal donors’. H singh
  • 41.
    41 Plasma of ABgroup blood has no antibody. This does not cause agglutination of RBC from any other group of blood. People with AB group can receive blood from any blood group persons. So, people with this blood group are called ‘universal recipients’. H singh
  • 42.
    42 In mismatched transfusion, thetransfusion reactions occur between donor’s RBC and recipient’s plasma. So, if the donor’s plasma contains agglutinins against recipient’s RBC, agglutination does not occur because these antibodies are diluted in the recipient’s blood. H singh
  • 43.
    43 Adverse effect ofBlood transfusion H singh Acute hemolytic reaction Delayed hemolytic reaction Allergic reaction Post-transfusion purpura Transfusion associated acute lung injury HIV Hepatitis C Transfusions of blood products are associated with several complications, many of which can be grouped as immunological or infectious such as:
  • 44.
  • 45.
    45 The Rh bloodgroup system is one of thirty- five current human blood group systems. It is the most important blood group system after ABO. Rh blood group system consists of 50 defined blood-group antigens, among them there are six common types of Rh antigens. Each of which is called an Rh factor. •These types are designated C,D, E, c, d, and e. H singh
  • 46.
    46 The type Dantigen is widely prevalent in the population and considerably more antigenic than the other Rh antigens. Anyone who has this type of antigen is said to be Rh positive, whereas a person who does not have type D antigen is said to be Rh negative. H singh
  • 47.
    47 •This antigen wasdiscovered by Karl Landsteiner and Alexander Wiener in 1940. •It was first discovered in Rhesus macaque and hence the name 'Rh factor’. H singh
  • 48.
    48 Erythroblastosis Fetalis (“HemolyticDisease of the Newborn”) Erythroblastosis fetalis is a disease of the fetus and newborn child characterized by agglutination and phagocytosis of the fetus’s red blood cells. In most instances of erythroblastosis fetalis, the mother is Rh negative and the father Rh positive. The baby has inherited the Rh-positive antigen from the father, and the mother develops anti-Rh agglutinins from exposure to the fetus’s Rh antigen. In turn, the mother’s agglutinins diffuse through the placenta into the fetus and cause red blood cell agglutination. H singh
  • 49.
    49 •Symptoms and signsin the newborn: • Anemia that creates the newborn's pallor (pale appearance). • Jaundice or yellow discoloration of the newborn's skin, sclera or mucous membrane. • Enlargement of the newborn's liver and spleen. •Severe edema of the entire body. •Dyspnea or difficulty breathing. H singh
  • 50.
    50 Thirty-five major bloodgroup systems were recognized by the International Society of Blood Transfusion (ISBT) in October 2012. In addition to the ABO antigens and Rhesus antigens, many other antigens are expressed on the red blood cell surface membrane. OTHER BLOOD GROUPS aa H singh
  • 51.
    51 An individual canbe AB Rh D positive, and at the same time M and N positive (MNS system), K positive (Kell system), and Lea or •Leb positive (Lewis system). Many of the blood group systems were named after the patients in whom the corresponding antibodies were initially encountered. H singh
  • 52.
    52 Other blood groupsinclude H singh  Auberger groups  Diego group  Bombay group  Duffy group  Lutheran group  P group  Kell group  I group  Kidd group  Sulter Xg group  Kidd group  Duffy group
  • 53.
    H singh 53 BOMBAY GROUP •The h/h blood group, also known as Oh [ or theBombay blood group,is a rare blood type.This blood [phenotype]was first discovered in Bombay, now known • as Mumbai, by Dr. Y .M.Bhendein 1952. • The Hh blood group containsone antigen, theHantigen,which is found on virtually all RBCs and is the building block for the productionof the antigens within the ABO blood group.
  • 54.