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Learning Objectives:

 Define genetic markers


 Recognize medicolegal importance of genetic
markers
 Classify different genetic markers
 Describe genetic markers on inheritance bases
 Apply genetic markers to solve crimes and
cases of disputed paternity
 Be aware of the hazards of blood transfusion
Genetic Markers:
Unique factors in human blood used to
discriminate him from all other persons

Genetic Markers used in Disputed Parentage Testing

І- Blood Group Systems.


ІІ- Serum Protein Systems .
ІІІ- Red Cell Isoenzymes System.
ІV- Hemoglobin Variants.
V- Major Histocompatibility complex. HLA
VІ- DNA Polymorphism.
Medicolegal importance of genetic markers

Identification:
Paternity Problem:
Medical field
Semen grouping.
saliva grouping
Medicolegal importance of genetic markers

1. Identification:
** Source of blood (murder).

Blood or not

A presumptive chemical test.


Confirm (M.P) of heme- crystalline
Blood group
DNA
** Mass
disaster

fitting together human parts

kidnapping cases**
alleged mix-up of infants
2-Paternity Problem:
Disputes may arise under the following circumstances:

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1- When a man is accused of being the father of a child


in rape and claims that he is not the father of a child.

2- When a man claims to be the father of a child but the


mother denies the claim.

3- A married man may allege that his wife has committed


adultery, and that he is not the father of one or more of
her children
3 - Medical field
1- Before:
Blood transfusion.
organ transplantation.

2- Rh –ve female
A pregnant Rh - ve female
should be given IG at labor to
prevent erythroblastosis
fetalis in the next child.

3 -The association
between certain blood groups and
diseases duodenal ulcer is more
common in persons of blood group
O.
grouping

laser light-1
to locate suspected semen
In cases of sexual assaults

Presumptive test for semen- 2


Phosphatase (AP) Test visualize spermatozoa - 3
The average ejaculate contains
to 150 million sperm cells per mL 50

The presence of the prostate-specific antigen P30- 4


Medico legal Problems :
a man who has a (oligospermia)
who has aspermia.
phosphate test indicates the presence of semen,
But the microscopical analysis yields no detectable
spermatozoa.

Confirm by
the presence of a protein, P30.

prostate specific antigen (PSA),


found in high concentration in human semen.
Some laboratories even use P30 testing in place of
MP for semen identification.
5 - saliva grouping:
Cigarette butts
Dental floss
Tooth picks
Chewing gum
Dental applications
Human bites
In cheese or apple
Saliva on envelope and postage stamps
are
also helpful for grouping.
Genetic Markers
I. Blood group systems
ABO groups
Rh group
MN system.
Other blood groups.
II. Red blood cell enzymes
III. Serum proteins
IV. Hemoglobin variants
V. HLA system.
VI.DNA
I. Blood group systems
1. ABO groups
The identification of blood group
A, B, AB or O is based on
appearance or absence of
antigens and antibodies.
Where ?
1- In blood
2 - Other tissue cells and in body:
sweat, tears, bile and milk. (secretors)
Rh group- 2
blood transfusion
in the obstetric field. Rh positive
NB
Rh negative
independent of sex
3 alleles in 2 alternative forms
C, c, D, d, E ,e.
+ variant is determined
by presence of D.
3. MN system:

Human blood can be divided into


M antigens M only homozygous
N antigen N only
MN both antigens M and N .

4. Other blood groups:


Duffy - Kidd -Diego
II. Red blood cell enzymes

Phosphoglucomutase (PGM)
3 phenotypes : PGM 1, PGM 2, PGM 1-2
Adenylate kinase.
Acid phosphatase.
These could be used for blood stains, in
body
fluids, in hair root and in teeth pulp.

These iso enzymes could be demonstrated


using gel electrophoresis.
III. Serum proteins
Haptoglobin: Hp
3 phenotypes: Hp1, Hp2,
Hp1-2
Group specific component
Gc
Immunoglobulins: Gm, Km
Transferrin Tf

Electrophoresis
IV. Hemoglobin variants
Are abnormal forms of hemoglobin.
Hemoglobin Made up:
Heme .
Globin
An iron-containing portion,
Amino acid chains.

Hemoglobin are found in all red blood cells.


They bind 02 in the lungs and release it to the body’s
cells and tissues.
NB
Hemoglobin variants occur when genetic genes change
cause alterations in the amino acids that make globin
protein That affect the structure of the hemoglobin.
TYPES
1- Adult haemoglobin Hb A
- Makes up about 95% - 98% of Hb
Found in adults.
Contains 2 (α) protein chains
2 (β) protein chains.
2- Fetal haemoglobin Hb F

Makes up to 2% of Hb a fetal nucleated erythrocyte


by fluorescence
Found in adults.
has 2 (α) and 2 (γ) protein chains.

The primary hemoglobin produced by the fetus


during pregnancy . usually falls to a low level
shortly after birth.
3-Sickle cell hemoglobin Hb S.

Has a single amino acid substitution in


the β-globin chain
from glutamic acid to valine
V. HLA system
Defintion
a substance that is located on the surface of
WBCs lymphocytes and various
tissues.

They are of 2 classes:


 Class I: HLA-A, HLA-B, HLA-C.
 Class II: HLA-D, HLA-DR, HLA-DQ.

This substance plays an important role in the


body's immune response.
Medicolegal importantance:

1- In determination of the degree of tissue


compatibility between transplant recipients and
donors to diminish rejection after transplant.

2- HLA can aid in paternity exclusion testing.

3- Certain HLA types have been linked to


autoimmune disorders as rheumatoid arthritis,
multiple sclerosis, serum lupus erythematosus,
Principles of blood group inheritance
1-Constant throughout life.
2-Ag pass from parent to offspring
3-One from each parent.

4-Donate at random.

If one parent has a homozygous allelic


pair then that gene must be present in
all of his or her offspring.
HH hh

Hh Hh Hh Hh
Inheritance of blood groups
ABO groups:
There are 3 alleles
A : AA -Aa
B : BB- Bb
O : OO

Father AB Mother O

A B O O
Ao Ao Bo Bo
Exclusion of paternity
1- By finding a gene product in a child :
absent from both mother and putative
father e.g. mother O and father O and
child A.

O
O

A
2- By finding a gene which the putative father
must give to his offspring do not appear in
the child:
When the father is homozygous for a gene
which does not appear in child.
e.g. father M and child N.

MM

NN
3- When the father is heterozygous for
2 genes neither appear in child
e.g. father AB and child O.

AB

OO
Inheritance of HLA. 2

Inheritance of
HLA.
Each child
inherits 2 HLA-A
and 2 HLA-B,
one from each
parent. HLA has
a great
individualizing
potential in
disputed
paternity.
Four types of bases:
consisting of :
two purines,
adenine (A).
guanine(G).
two pyrimidines.
cytosine (C).
thymine (T).

NB
In RNA uracil (U) replaces
thymine
Every cell within an individual contains
the same DNA
DNA Finger printing
the unique sequence of a person base
pairs.

DNA typing :
A child inherits a strand of
DNA from its mother and the
other from its father.
Bands in a child's DNA
not match its mother's must
have come from the child's
father.
Paternity tests:
1- Good negative.
using different blood markers require a great
number of blood test and could only prove
that an individual was not the father of a
child.

2- Good positive
DNA finger printing alone good positive show
whether or not a man is the biological father
of a child.
Hazards of blood transfusion
A. Immediate reactions:

1- Febrile reactions:
Due to pyrogens, leukocyte
isoagglutinin
or platelet agglutinins.
Pyrexia
1- multiple transfusions.
2- haemolytic reactions. :Reactions due to infected blood. 4
3- infected blood.
2. Allergic reactions:
:Thrombophlebitis .5
Skin rash
antigen and antibody. .More common after cannulation
3. Circulatory overload:
Leading to heart failure. :Citrate toxicity. 6
hypocalcaemia
. hyperkalaemia
Hypotension
.arrhythmia
B. Delayed reactions:
1. Haemolytic reactions:
S&S
jaundice and haemoglobinuria.
due to
Blood group incompatibility,
Improper storage of blood
Transfusion of haemolysed blood (over heated – freezed).
2. Immunological sensitization
a red cell antigen - production of immune antibodies to
that antigen e.g. Rh negative.
This is harmful in patients needing multiple transfusions.
3.Transfusion siderosis.
4. Transmission of diseases:
Hepatitis B ,C. AIDS, Malaria, Cytomegalovirus