11 DNA
(DEOXYRIBONUCLEIC ACID)
OVERVIEW
This module intends to apply DNA concept in crime investigation. Prior
to the discovery of the use of DNA in forensic investigation, body fluids are
being examined in what is known as forensic serology. However, this method
does not establish the identity of its source. With the discovery of the
application of DNA examination in forensic cases, this gave the link between
the biological evidence found at the crime scene to an individual. DNA
analysis is impartial. It exonerates the innocent and implicates the guilty.
LEARNING OBJECTIVE
Ø To be able to apply DNA concept in crime investigation
Ø To be able to understand the basic concept of DNA
SCOPE
A. DNA (DEOXYRIBONUCLEIC ACID)
B. DNA FINGERPRINTING
C. DNA PROFILING
INTRODUCTION
The genes of a person consist of DNA molecules and is responsible for
the development, functioning, growth and reproduction of all organisms and
some viruses. These composes the chromosomes inside the nucleus of the cell.
generally, human cells
contain 46 chromosomes or
23 paired chromosomes
except, human reproductive
cells, the egg cell and sperm
cell contain 23 unpaired
chromosomes
when the sperm cell and
egg cell combine, each
contributes twenty-three
chromosomes to form a
new cell called zygote
sperm cell – the male reproductive cell containing a long X chromosome
and a short Y chromosome
egg cell – the female reproductive cell
zygote – the cell arising from the union of sperm cell and egg cell
Thus, a new life begins with twenty-three mated chromosome pairs.
Considering that the genes are contained in the chromosomes, the new
individual inherits from each parent their genetic material. Furthermore, sex
is determined by the combination of different chromosomes, the X-
chromosome and the Y-chromosome.
X chromosome – the female sex chromosome is a long chromosome found
on the egg cell
Y chromosome – the male sex chromosome is a short chromosome found
on the sperm cell
Genes also come in pair. The position a
gene occupies on a chromosome is its locus. A
given characteristic is inherited from the
father and mother.
gene – the basic unit of heredity consisting of
DNA segments found in the chromosome
chromosome – a threadlike structure in the
cell nucleus composed of DNA together
where the genes are found
alleles - alternative forms
that are aligned with one
another on a chromosome
pair
homozygous gene – a
gene pair made up of two
similar alleles
heterozygous gene – a
gene pair made up of two
different alleles
When two different genes are
inherited, one gene will be:
dominant gene – the characteristic
code for that gene is expressed
recessive gene – the characteristic
code for that gene remains hidden
A. DNA (DEOXYRIBONUCLEIC ACID)
DNA – a long double stranded molecule or a polymer composed of two
polynucleotide chains that coil around each other to form a double helix
polymer – a very large molecule formed by linking monomers or a series
of repeating units
nucleotide – the intact DNA molecule is composed of the base adenine
(A), thymine (T), cytosine (C) and guanine (G) linked to a sugar
molecule (deoxyribose) and phosphate group constituting the backbone
of the helix
1. Four Major Types of Macromolecules that are Essential for the
Formation of Life
Ø nucleic acids – DNA and RNA (ribonucleic acid)
Ø proteins
Ø lipids
Ø polysaccharides (complex carbohydrates)
2. The concept of heredity was explained upon the discovery of DNA
through:
Ø decoding its structure
Ø deciphering its genetic information
3. By understanding the basic structure of genes, we can:
Ø create new products through genetic engineering
Ø develop diagnostic tools and treatments for genetic disorders
The two strands depend on the fact that A is only paired with T and C is
only paired with G, except when there is mutation. The nucleotide is divided
into two groups: pyrimidines (thymine and cytosine) and purines (adenine
and guanine).
transcription – a process wherein RNA strands are created from DNA
strands and DNA bases are exchanged for their corresponding bases
except thymine (T), wherein uracil (U) substitutes in RNA
translation – a process under the genetic code wherein RNA strands give
the sequence of amino acids within proteins
Inside the eukaryotic cells are chromosomes. Before cell division, these
chromosomes are duplicated in the process of DNA
replication and give a complete set of chromosomes for
each daughter cell.
Most DNA are inside the cell nucleus as nuclear
DNA while some are in the mitochondria as
mitochondrial DNA or in chloroplasts as chloroplast
DNA in eukaryotic organisms (animals, plants, fungi
and protists). On the other hand, prokaryotes (bacteria
and archaea) has their DNA only in the cytoplasm as
circular chromosomes. Inside eukaryotic chromosomes chromosomes
are chromatin proteins (histones) that compact and organize DNA. It guides
the interactions between DNA and other proteins controlling which part of
the DNA are transcribed.
B. DNA FINGERPRINTING (DNA TYPING)
In 1984, Sir Alec Jeffreys, a British geneticist from the Department of
Genetics, University of Leicester, England discovered DNA fingerprinting
(DNA typing) wherein the genetic code sequence can identify an individual.
The first forensic case involving DNA was in 1985 when Sir Alec
Jeffreys’ method was used in an immigration case having dispute as to the
identity of a British boy whose family originally came from Ghana.
Moreover, it was first used in police investigation in 1986. Two teenagers
were raped and murdered in Narborough, Leicestershire in 1983 and 1986,
respectively. Richard Buckland, a suspect in custody confessed to the recent
murder case but not with the previous case. DNA profiling showed that the
semen collected from both victims was the same. However, it did not match
the suspect and he was the first person to be released from a crime through
DNA evidence. Later, Colin Pitchfork was apprehended and after comparison
with his DNA, it gave a match. He was the first person convicted of a crime
due to an examined DNA evidence.
1. Short Tandem Repeats (STRs)
STRs are found on the chromosome containing short sequence elements
normally consisting of three to seven bases repeating within the DNA
molecule serving as markers for identification. The entire strand is less than
450 bases making it shorter than other DNA typing procedures. In other
words, STRs are less susceptible to degradation and often recovered even
there is extreme decomposition of the body or stain. Furthermore, due to its
shortness, it can be multiplied by PCR resulting to overcoming the limited
and sample size problem encountered in crime scene evidence.
Short Tandem Repeat (STR) - repeating short segments of DNA containing
three to seven base pairs acting as filler or spacers between the coding regions
of DNA
In DNA typing using STR, the smaller the value of probability, the
more it is selective. This high degree of selectivity and individualization is
attainable by analysis of combination of STRs or multiplexing. Thus, the
greater the number of STRs character of the examined sample, the smaller will
be the frequency of its occurrence in the population.
probabilities of identity – a measure of the possibility that random selection
of two individuals will have an identical STR type
product rule – the determination of the frequency of occurrence of the
product in a population using the probability of biological evidence
through STR combination
2. Multiplexing
When an STR is selected for examination, the sequence of bases flanking
the repeats must be established and not only the identity and number of
repeats.
multiplexing – a technique used to simultaneously detect more than one DNA
marker in a single analysis through amplification of combination of different
STRs using PCR
3. Y-STR (Sex Identification Using STR)
Y-STRs are useful for analysis of blood, saliva or a vaginal swab wherein
there is a mix originating from more than one male or when several males are
involved in a sexual assault. STR types are derived from the Y chromosome
originating from only one male chromosome. The XX chromosome pattern of
a female person does not contribute any DNA information. Also, a Y-STR has
only one band or peak for each STR type. In the traditional STR DNA
analysis, the pattern produced shows two bands for each sample.
Y-STR – short tandem repeats found on the human Y chromosome
amelogenin gene – located on both X and Y chromosomes giving the sex of
the DNA contributor and has the characteristic of six base shorter in the X
chromosome than in the Y chromosome
Y chromosome – male specific and is always paired with an X chromosome
C. DNA PROFILING
DNA profile – produced after analysis of a biological sample retrieved from
an individual or left at the crime scene and searched and compared on the
DNA database
adventitious match – a chance match between profiles that do not originate
from the same source
DNA samples are obtained from an individual through the following
methods:
Ø court order sample – an individual is ordered by the Court to submit
DNA sample
Ø suspect sample – sample is collected from an arrested person
Ø elimination sample – voluntarily submitted or collected sample from
the victim
Ø crime scene sample – sample recovered from the crime scene
warm hit – DNA matches with an individual previously suspected or
involved in crime
cold hit – DNA matches with an individual not previously suspected of
involvement
D. PCR (POLYMERASE CHAIN REACTION)
Each base pairing in the DNA strand of the double helix contains the
same information. In PCR, it is recreated producing two identical DNA
copies. The cell passes the genetic identity when it divides.
Polymerase Chain Reaction (PCR) – a laboratory technique designed to
multiply and copy portions of a DNA strand outside of the living cell
DNA polymerase – enzymes that creates a new DNA strand having a proper
base sequence set by the original or parent DNA strand
REFERENCES
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