MODULE FIVE

APPLICATIONS OF BLOOD GROUP SYSTEMS AND DNA FINGER PRINTINGS

* 1ARISE, R.O., 2KURANGA, S.A., and 3OGUNJEMILUA, S.B
1Departmentof Biochemistry, Faculty of Life Sciences, University of Ilorin, Ilorin, Nigeria
2Department of Surgery, Faculty of Clinical Sciences, University of Ilorin, Ilorin, Nigeria
3Department of Family Medicine, University of Ilorin Teaching Hospital, Ilorin, Nigeria

*Corresponding author: [email protected]

Introduction
Human being is a unique creature. Its uniqueness lies in the unit of inheritance called DNA
(deoxy ribonucleic acid), present in all the body cells and is the basis of variability among
individuals. The chemical structure of everyone's DNA is the same. The only difference between
people (or any animal) is the order of the chemical components of DNA known as base pairs
which consist of four compounds, adenine, guanine, cytosine and thymine. Although 99 % of all
DNA in every human body are the same, the remaining 1 % is unique to each individual. On this
basis, identification of every individual is made possible. These variations are the underlying
principles for most of the applications of blood group and DNA fingerprinting.

Learning Outcomes
By the end of this module, you should be able to:
(i) state the essence of the human DNA;
(ii) understand the underlying principles for most of the blood group and DNA fingerprinting
applications;
(iii)state the most important classifications to describe blood types in humans;
(iv) define blood transfusion; the ABO system and the Rhesus factor (Rh factor) systems;
(v) state the various applications of DNA fingerprinting;
(vi) state the applications of tandem repeats

Main Body
Introduction
The module introduces you into the rudiments of the blood group systems, the DNA
fingerprinting and their various applications. This unit is divided into two units as follows:
Unit 1 Blood Group System
Unit 2 DNA Fingerprinting
Unit 1: Blood Group System
Contents
1.0 Introduction
2.0 Learning Outcomes
3.0 Main Contents
3.1 Blood Group Systems
3.2 The ABO system
3.3 The Rhesus Blood Group
3.4 Uses of ABO and Rhesus Blood Groups
4.0 Summary
5.0 Self-Assessment Questions
6.0 Tutor Marked Assessment
7.0 Further Reading

1.0 Introduction
This study unit introduces you to the various blood group system, the rhesus blood group and
their uses vis-à-vis transplanting, organ transplants and paternity testing.

2.0 Learning Outcomes

By the end of this unit, you should be able to:
i. Explain Blood group systems
ii. Identify the various four blood groups
iii. Explain the Rhesus Blood group
iv. Uses of the ABO and Rhesus Blood groups

3.0 Main Content

3.1 Blood group systems
"Blood group" is used to refer specifically to a person's ABO status, while "blood type" refers to
both ABO and Rh factors. The two most important classifications to describe blood types in
humans are ABO and the Rhesus factor (Rh factor). There are 46 other known types in humans,
most of which are rarer than ABO and Rh.
The ABO classified blood into four groups, A, B, AB and O while the rhesus classified it as
positive or negative. However, this classification is based on the presence of specific molecules,
called antigen on the surface of red blood cells.
The human body is so discriminative that it only accepts substances with structures similar to its
own. For instance, it tends to reject incompatible blood groups when transfused and this may
leads to many pathological conditions including haemolytic anaemia (lysis of the blood cells),
kidney failure, shock, and even death.
Blood transfusion is the intravenous replacement of lost or destroyed blood. The blood given in
the transfusion must be of the correct type, one that matches the patient group; otherwise the
tissues reject the new blood by forming a clot. Tissues generally reject any foreign body and a
transfusion of blood can, if of the wrong groups, be taken as a foreign body. The ABO blood
types also exist among chimpanzees and baboons.
The absence of recognizable antigen type (A and B) on the surface of the RBC leads to
production of defence (called antibody) by the body against such blood cell and hence,
immediate destruction of the infused blood. The breakdown products cause acute medical illness;
hence, it is of, quite literally, vital importance that the blood types of the donor and receptor are
properly matched.
3.2 The ‘ABO’ System
There are four groups in the ABO blood grouping system; they include blood group ‘A’, ‘B’,
‘AB’ and ‘O’. The RBC of these groups contain the corresponding antigens, A, B, A and B and
neither A nor B respectively. Along with these antigens, the blood also contain antibodies as
defence against non-matching antigens; the anti-A and anti-B.
Blood group A: This group contains antigen A in their blood cells and antibody anti-B in their
plasma. People with blood group ‘A’ can receive and give blood to people with blood group ‘A’
only (provided they are compatible for Rh factor).
Blood Group B: This group contains antigen B in their blood cells and antibody anti-A in their
plasma. People with blood group ‘B’ can receive and give blood to people with blood group ‘B’
only (provided they are compatible for Rh factor)
Blood Group AB: This group contains both antigens A and B in their blood cells and none of
the antibodies in their plasma. People with blood group ‘AB’ are known as “universal recipients”
as they can receive blood from any person belonging to any of the ABO group (with matching
rhesus status). Thus people with AB blood type can receive blood from people with blood group
‘A’, ‘B’, ‘AB’ or ‘O’ (however, compatibility with other antigens like rhesus needs to be
matched).

Blood Group O: This group contains none of the antigen (‘A’ or ‘B’ in their blood cells but
contain both the antibodies (anti A and anti-B) in their plasma. People with blood group ‘O’ are
known as “universal donors”, as they can donate their blood to a person belonging to any of the
‘ABO’ group (with matching rhesus status).
Thus people with ‘O’ blood type can donate blood to people with blood group ‘A’, ‘B’ ‘AB’ or
‘O’ (however, compatibility with other antigens like rhesus needs to be matched).
3.3 The Rhesus Blood Group
Like the ABO system, rhesus blood grouping is also classified based on the red blood cell
surface antigen designated by the letters Cc, Dd, Ee and Ff.
The letters denote allelomorphic genes which are present in all cells except the sex cells where a
chromosome can carry C or c, but not both. In this way, the Rhesus genes and blood groups are
derived equally from each parent.
When the cells contain only the cde groups, then the blood is said to be Rhesus negative (Rh -
ve); when the cells contain C, D or E singly or in combination with cde, then the blood is Rhesus
positive (Rh +ve).
Matching the Rhesus factor is very important, as mismatching (an Rh positive donor to an Rh
negative recipient) may cause the production in the recipient of an antibody to the Rh(D)
antigen, which could lead to subsequent haemolysis.
This is of particular importance in females of or below childbearing age, where any subsequent
pregnancy may be affected by the antibody produced. For one-off transfusions, particularly in
older males, the use of Rh(D) positive blood in an Rh(D) negative individual (who has no
atypical red cell antibodies) may be indicated if it is necessary to conserve Rh(D) negative stocks
for more appropriate use. The converse is not true: Rh +ve patients do not react to Rh -ve blood.

Rh disease occurs when an Rh negative mother who has already had an Rh positive child (or an
accidental Rh +ve blood transfusion) carries another Rh positive child. After the first pregnancy,
the mother immune system is sensitized against Rh +ve red blood cells, such that during the
second Rh +ve pregnancy, an antibody (known as immunoglobulin G) is produced which can
cross the placenta and haemolyse the red cells of the second child. This reaction does not always
occur, and is less likely to occur if the child carries either the ‘A’ or ‘B’ antigen and the mother
does not. In the past, Rh incompatibility could result in stillbirth, or in death of the mother, or
both.

Rh incompatibility was until recently the most common cause of long term disability in the
United States. At first, this was treated by transfusing the blood of infants who survived. At
present, it can be treated with certain anti-Rh +ve antisera, the most common of which is
Rhogam (anti-D). It can be anticipated by determining the blood type of every child of an RhD -
ve mother; if it is Rh +ve, the mother is treated with anti-D to prevent development of antibodies
against Rh +ve red blood cells.

3.4 Uses of ABO and Rhesus Blood Groups

a. Transfusion: Identification of match blood group is important before transfusion. Based
on this, blood can be classified generally into eight groups A+, B+,AB+, O+, A-, B-, AB- and O-
. Correct matching for the ABO system is vital. An individual with either of the blood group A+,
B+, A-, B- can only receive blood carrying the same antigen. However, AB can receive from any
of the group since it has the two A and B antigen while a person with O blood group donate to
anybody due to the lack of the antigens; thus are recognized as ‘self’.

Rh-negative persons transfused with Rh-positive blood will make anti-D antibodies from 50 to
75 percent of the time. Antibody made in response to a foreign red cell antigen is usually not
harmful but does require subsequent transfusions to be antigen-negative. Rh-positive blood
should never be given to Rh-negative females before or during the childbearing age unless Rh
negative blood is not available and the transfusion is lifesaving. If such a woman subsequently
became pregnant with an Rh-positive foetus, she might form anti-Rh antibody, even though the
pregnancy was the first, and the child might develop erythroblastosis fetalis (haemolytic disease
of the newborn).
b. Organ transplants: The ABO antigens are widely distributed throughout the tissues of
the body. Therefore, when organs such as kidneys are transplanted, most surgeons prefer to use
organs that are matched to the recipient's with respect to the ABO antigen system, although the
occasional survival of a grafted ABO-incompatible kidney has occurred.

c. Paternity testing: Although blood group studies cannot be used to prove paternity, they
can provide unequivocal evidence that a male is not the father of a particular child. Since the red
cell antigens are inherited as dominant traits, a child cannot have a blood group antigen that is
not present in one or both parents. For example, if the child in question belongs to group ‘A’ and
both the mother and the putative father are group ‘O’, the man is excluded from paternity. By
using multiple red cell antigen systems and adding additional studies on other blood types (HLA
[human leukocyte antigen], red cell enzymes, and plasma proteins), it is possible to state with a
high degree of statistical certainty that a particular male is the father.

4.0 Summary
The two most important classifications to describe blood types in humans are ABO and the
Rhesus factor (Rh factor). There are 46 other known types in humans, most of which are rarer
than ABO and Rh. The ABO classified blood into four groups, A, B, AB and O while the rhesus
classified it as positive or negative. Some uses of the ABO and Rhesus Blood Groups include,
transfusion, paternity testing and organ transplanting.

5.0 Self-Assessment Questions

1. State the most important classifications to describe blood types in humans;
2. Define blood transfusion;
3. Differentiate between "blood group" and "blood type";
4. Describe the ABO and the Rhesus factor (Rh factor) systems;
5. Explain the various classes of the ABO system;
6. Differentiate between the various blood groups;
7. State the importance of the Rhesus factor in females of or below childbearing age;
8. Enumerate the various uses of ABO and Rhesus Blood Group;
9. Explain the importance of ABO system in organ transplant;
10. Classify blood on the basis of blood transfusion;

7.0 Tutor Marked Assessment

i. Give two differences between the blood groups AB and O.
ii. What is the similarity between blood groups AB and B?
iii. In what order is the commonness of the blood types?

8.0 Further Reading

Agre, P and Carton, J.P. (1991): Molecular biology of the Rh antigens. Blood 78:551-563.
Avent, N.D., Liu, W. and Warner, K.M. (1996): Immunochemical Analysis of the human
erythrocyte Rh polypeptide. J. Biol. Chem. 271: 14233- 14239.
Unit 2: DNA Fingerprinting
Contents
1.0 Introduction
2.0 Learning Outcomes
3.0 Main Contents
3.1 DNA Fingerprinting
3.2 Steps in laboratory procedure for DNA fingerprinting
3.3 Uses of DNA fingerprinting
4.0 Summary
5.0 Self-Assessment Questions
6.0 Tutor Marked Assessment
7.0 Further Reading

1.0 Introduction
This study unit familiarizes you to the concept of DNA fingerprinting technology and their uses
vis-à-vis diagnosis of inherited disorder, developing cures for inherited disorders, paternity and
maternity, etc.
2.0 Learning Outcomes
By the end of this unit, you should be able to:
i. state the essence of the human DNA;
ii. highlight the basis of variations among individuals;
iii. explain how the identification of every individual on the basis of DNA is possible;
iv. enumerate the four laboratory steps involved in DNA fingerprinting;
v. state the various applications of DNA fingerprinting;
3.0 Main Contents
3.1 DNA Fingerprinting
The characteristics of all living organisms including humans are essentially determined by
information contained within DNA (deoxyribonucleic acid) that they inherit from their parents.

Each person has a unique DNA fingerprint like the fingerprints that came into use by detectives
and police laboratory during the 1930s. Unlike conventional finger print that occurs only on the
finger tips and can be altered by surgery, a DNA fingerprint is the same for every cell and
therefore every part of the body of a person. It cannot be altered by any known treatment.
Consequently, DNA fingerprinting is rapidly becoming the primary method for identifying and
distinguishing among individual human beings.

The molecular structure of DNA can be vividly described as a zipper with each tooth represented
by one of four letters A, C, G or T, coding for adenine, cytosine, guanine and thymine
respectively with opposite teeth combining to form an A-T or G-C pairs.

The information contained in DNA is determined primarily by the sequence of the letters along
the zipper. Therefore, two DNAs having the same composition but in different sequence present
different information. For example, the sequence ACGCT represents different information than
the sequence AGTCC in the same way that the word “POST” has a different meaning from
“STOP” or “POTS”, even though they use the same letters. The characters of a human being are
the result of information contained in the DNA code.

There are so many millions of base pairs in each person’s DNA with a different and unique
sequence. Using these sequences, every person could be identified solely by the sequence of their
base pairs. However, because there are also many millions of base pairs, the task would be very
time-consuming. Instead, scientists are able to use a shorter method, because of repeating
patterns in DNA. These patterns do not, however, give an individual “fingerprint”, but they are
able to determine whether two DNA samples are from the same person, related people, or non-
related people.

3.2 Steps in laboratory procedure for DNA fingerprinting

Living organisms that look different or have different characteristics also have different DNA
sequence. The more varied the organisms, the more varied the DNA sequences. DNA
fingerprinting is a laboratory procedure that requires four steps namely:

1. Isolation of DNA: DNA must be recovered from the cells or tissues of the body. Only a
small amount of tissue, (blood, hair, or skin) is needed. The amount of DNA found at the
root of one hair strand is usually sufficient.
2. Cutting, sizing and sorting: Special enzymes called restriction enzymes are used to cut
the DNA at specific places. The DNA pieces are sorted according to size by a sieving
technique called electrophoresis. The DNA pieces are passed through a gel or a jelly-like
product made from seaweed (agarose).
3. Transfer of DNA to nylon: The distribution of DNA pieces is transferred to a nylon
sheet by placing the sheet on the gel and soaking them overnight.
4. Probing: Adding radioactive or coloured pobes to the nylon (nitrocellulose paper) sheet
produces a pattern called the DNA fingerprint. Each probe typically sticks in only one or
two specific point(s) on the nylon sheet. This method of probing is known as
hybridization. The final DNA fingerprint is then built by using several probes (5-10 or
more) simultaneously.

3.3 Uses of DNA fingerprinting

DNA fingerprints are useful in several applications of human health care research and the justice
system:
a) Diagnosis of inherited disorder: DNA fingerprinting is used to diagnose inherited
disorders in both parental and new-born babies in hospitals around the world. These
disorders may include cystic fibrosis, haemophilia, sickle cell anaemia and others. Early
detection of such disorders enables medical practitioners and the parents for proper
treatment of the child. Genetic counsellors use DNA fingerprint information to help
prospective parents understand the risks of having an affected child and in their decision
concerning affected pregnancies as well as marriages.
b) Developing cures for inherited disorders: Research programmes aimed at locating
inherited disorders on the chromosomes depend on the information contained in DNA
 fingerprint. By studying the DNA fingerprints of relatives who have history of some
particular disorder, or by comparing larger groups of people with and without the
disorder, it is possible to identify DNA patterns associated with the disease in question.
This is a necessary first step in designing and eventual genetic cure for these disorders.
c) Paternity and maternity: Each individual is characterized by arrays of DNA sequence
inherited from his/her parent. Although some sequences may be common between
individuals, some are unique to a particular line, particularly, those involving repetition
of sequence (e.g. CAGCAGCAGCAG). Such repeated DNA sequence is known as
tandem repeats. It describes a pattern that helps determine an individual's inherited traits.
Because a person inherits his or her tandem repeats from his/her parents, the patterns of
the tandem repeats can be used to establish paternity and maternity. The patterns are so
specific that a parental tandem repeats pattern can be reconstructed even if only the
children’s repeats patterns are known.
d) Criminal identification and forensic: DNA isolated from blood, hair, skin, cells or
other genetic evidence left at the scene of crime can be compared, through their tandem
repeats patterns, with the DNA of a criminal suspect to determine guilt or innocence.
Tandem repeats patterns are also useful in establishing identity of a homicide victim,
either from DNA found as evidence or from the body itself.
e) Personal identification: Since tandem repeats is unique to a particular individual or
family line, it does allow for identification of an individual or member of a family.

4.0 Summary
The successful applications of DNA finger prints would change the relations between criminals
and victims in unpredictable ways. Obviously, adding a powerful new weapon to the arsenal of
the law will increase rate of detection and conviction, removing dangerous people from
circulation-and, we should remember, it will also prove valuable in clearing the innocent. Yet it
will be naive to think that criminals will remain passive in the face of the new technology, or that
the prospect of inevitable capture and incarceration will stay their hands. Helpful though blood
groupings and DNA finger prints may be, it is not a panacea.

5.0 Self-Assessment Questions

i. State 3 importance of the DNA code.
ii. What are the laboratory steps required for a successful DNA fingerprinting?
iii. Give 4 uses of DNA fingerprinting

6.0 Tutor Marked Assessment

1. Differentiate between DNA fingerprint and the conventional fingerprint that occurs only
on the finger tips.
2. To what use do scientists put repeating patterns in DNA?

7.0 Further Reading

Agre, P and Carton, J.P. (1991): Molecular biology of the Rh antigens. Blood 78:551-563.
Avent, N.D., Liu, W. and Warner, K.M. (1996): Immunochemical Analysis of the human
erythrocyte Rh polypeptide. J. Biol. Chem. 271: 14233- 14239.
Landsteiner, K. and Wiener, A.S. (1940): An agglutinable factor in human blood recognized by
immune sera for rhesus blood. Proc. Soc. Exp. Biol. Med. 43:223-224.