1.

DNA in Forensic

By Dr. Tiana Milanda

 Introduction
 In the late 1800s, efforts to fight crime were given by
photography  limitations : criminals found may ways to
alter their appearance.

 100 years ago, scientists discovered that the tiny arches and
whorls in the skin of the fingertips could be to establish
identity.
 They need a huge collections of prints and clerks were
responsible for examining each set of possible prints to find
matches  the process became less tedious and more
realiable with a computer
 Limitations : fingerprints can be wiped away and gloves can
be worn to keep from leaving fingerprints behind.

 In 1985, a new kind of “fingerprinting” :

DNA fingerprint
www.themegallery.com Company Name
 DNA Structure
 DNA/polinucleotide is made
up of a series of monomers
called nucleotides.
 Each nucleotide has three
parts :
a nitrogenous base :
interchangable components
 a pentose sugar (5C)
 deoxyribose

in DNA
 ribose in RNA

 a PO4 group
 DNA Structure
2 types of nitrogen bases :
 Purines, double ring N base :
 adenine (A)

 guanine (G)

 Pyrimidines, single ring N

base :
 cytosine (C)

 thymine (T) in DNA

 uracil (U) in RNA

 DNA Structure
 Polinucleotide: backbone
 the sugar of one nucleotide
connect (C3) to the PO4 group
(C5) of an adjacent nucleotide
= phosphodiester bond
 The bases
 N bases hang off the
sugar-phosphate backbone
single nucleotide chain (C1)
 Each strand of
polinucleotide has polarity :
5’ end (PO4 end)  3’ end
(OH end)
DNA structure
The two strands of a DNA molecule are
joined by H bonds between
complementary base pairs
in opposite strand
 purine :: pyrimidine
A :: T
 2 H bonds

 G :: C
 3 H bonds
DNA structure

’3 ’5
Two strands of DNA are


considered antiparalel,
because the polarity of each
strand is reversed relative to

’5 ’3

each other  a double helix

Minor groove

Major groove

“B structure” DNA
turned right
 Human DNA Packing
 In human cells, DNA are packing in nuclear
chromosome and cytoplasmic mitochondria
chromosome
 Nuclear
chromosomes
 In every human cell,
3.1 billion bp (base
pair) of DNA (6 feet)
fit into a nucleus
 These DNA wrapped
around proteins and
organized into tightly
coiled units called
chromosomes
 male
Nuclear
chromosomes

• Human cells : somatic cells

and gametes
• Each somatic cells have
two sets of 23 linear female
chromosomes (diploid), 23
maternal chromosomes
and 23 paternal
chromosomes
homologous pairs
Homologous chromosomes
 Paired chromosomes
 both chromosomes of a pair carry genes
 control same inherited characters
 homologous = same information
diploid homologous
2n chromosomes

double stranded
homologous chromosomes
 male
Nuclear
chromosomes
• Chromosomes 1-22 
autosomes, chromosomes
23  sex chromosomes,
consisting of X and Y
chromosome
• Autosomes contain genes female
that affects other body
features unrelated to sex
• Sex chromosome contain
genes that influence sex
traits and the development
of reproductive organs
 male
Nuclear
chromosomes
• Human males have an X
and a Y chromosomes
(XY) and females have a
pair of X chromosomes
(XX)
• A set genes found on the female
Y chromosomes, called
SRY (sex-determining
region) determine an
embryo into a male or
female
 Y Chromosome Structure
SRY ~60 Mb total DNA sequence (only
chromosome 22 is smaller)
p AMEL

~2.5 Mb on tips recombine with X

(pseudoautosomal regions)

q 35-36 Mb euchromatin 9.5 Mb

sequenced (27%)

heterochromatin
Genetic
Genetic variation
variation at
at
multiple
multiple points
points along
along the
the YY
chromosome
chromosome is is combined
combined
to
to form
form aa YY haplotype
haplotype for
for aa
Nucleic Acids Res. 28(2), e8 (2000) sample
sample
 Nuclear chromosomes
 Each gametes (sperm or
ovum cells) contains 23
linear chromosomes
(haploid)
 A diploid fertilized egg
(zygote) is formed each
time a sperm and egg
fuse
 Its diploid set is passed on
to newly formed somatic
cells by mitosis
 A process called meiosis
produces gametes
Mitosis vs Meiosis
 Mitosis vs Meiosis
 Mitosis  Meiosis
1 division 2 divisions
 daughter cells  daughter cells
genetically identical to genetically different from
parent cell parent
 produces 2 cells  produces 4 cells
 2n → 2n  2n → 1n
 produces cells for  produces gametes
growth & repair
 no crossing over  crossing over
 Genetic variation : in human
 Genetic variability in sexual reproduction
 independent assortment
 homologous chromosomes in meiosis 1
 crossing over
 between homologous chromosomes in prophase 1
 random fertilization
 random ovum fertilized by a random sperm

metaphase1
 Independent assortment
 Meiosis introduces genetic variation
 gametes of offspring do not have same genes
as gametes from parents
 genetic recombination
 random assortment in humans produces 223
(8,388,608) different combinations

new gametes
from Mom from Dad
made by offspring
 Crossing over
 During prophase 1
 homologous pairs swap
pieces of chromosome
 sister chromatids intertwine
 crossing over

tetrad

synapsis
 Random fertilization
 Any 2 parents will produce a zygote with
over 70 trillion (223 x 223) diploid
combinations
 Mitochondrial DNA
Mitochondria - The powerhouse of the cell.
The number of mitochondria varies greatly with the type of
cell and stage of its development (ranging 200-1,000)

Mitochondria have
Mitochondria their own DNA
 Mitochondrial DNA

Double Helix Nuclear Mitochondrial DNA

Chromosomes
Each mitochondrion contains two or three circular DNA
 Coding and non coding
sequences
 Nuclear and mitochondrial chromosomes consist of two
types of nucleotides
1. Those that make up the genes, called coding
sequences
2. Those whose function is largerly unknown, called non
coding regions
 The nucleotide in coding and non coding portion are
alike, they differ solely in whether or not they contribute
to one or more of the individual’s trait (phenoptype)
 Gene
 A gene is a sequence of nucleotides (1,000-
4,000 bp) for the synthesis of a specific
polypeptide or a specific protein or a particular
type of RNA.
 By controlling the proteins produced by a cell,
genes influences how cells, tissues and organs
appear.These inherited appearances are called
traits.
 Nuclear : Non coding sequence

Intergenic DNA
3’ 5’
5’ Gene 1 Gene 2
3’

3’ 5’
5’ Gene 1 Gene 2
3’

Introns
Nucleus :
Eukaryotic genomes full of repeated DNA

Repeat Unit # Repeats

Satellite DNA 100 – 1000 bp ???

Minisatellite DNA or
10 – 100 bp 7 - 80
Variable Number of
Tandem Repeats (VNTR)

Microsatellite DNA or
2 – 6 bp 5 - >40
Short Tandem Repeats
 VNTR
 Rectangle blocks represent repeated DNA sequences at
a particular VNTR location
 Repeats are tandem – clustered together and oriented in
same direction
 Repeats can be removed or added leading to alleles with
different numbers of repeats.
 Types of STRs

Dinucleotide, trinucleotide, tetranucleotide,

pentanucleotide, hexanucleotide.

Simple repeats: identical length and sequence.

Compound repeats: two or more adjacent simple
repeats.
Complex repeats: repeat blocks varying in unit
length and sequence
 Short Tandem Repeats

Person 1 ..GCCAGCTAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5 6

Person 2 ..GCCAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5

Person 3 ..GCCAGCTAGCTAGCTAGCTAGCTAGCTAGCTT..
1 2 3 4 5 6 7

On average, occur every 10,000 nucleotides.

LOCUS AND ALLELE
Locus or Loci:
Refers to the location on the
chromosome.

Allele:
Refers to the type of DNA.

Each person has 2 alleles at each locus.

 Short Tandem Repeats

D5S818

2 alleles per locus

Person 1..GCCAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4
..GCCAGCTAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5 6
Person 2..GCCAGCTAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5 6
..GCCAGCTAGCTAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5 6 7
Person 3..GCCAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5
..GCCAGCTAGCTAGCTAGCTAGCTTTCAT..
1 2 3 4 5

Homozygote = both alleles are the same length

Heterozygote = alleles differ and can be resolved from one
another
 Nuclear : Non coding sequence

Intergenic DNA
3’ 5’
5’ Gene 1 Gene 2
3’

3’ 5’
5’ Gene 1 Gene 2
3’

Introns
 Loci Nomenclature
• Introns: STR name based on gene.
TH01 - located in the 1st intron (01) of gene for
tyrosine hydroxylase
• Intergenic DNA: based on chromosome
D = DNA
D5S818 5 = chromosome 5
S = single copy in genome
818 = 818th locus
 Coding and non coding sequences
 In a mitochondrial chromosome, the coding and non
coding areas are entire separate. Non coding portion
being located in a region reffered as the control region
(also called displacement loop or D-loop)
 The control region contains 1,100 bp and is devided into 2
distinct sections, hypervarible 1 (HV1) and hypervarible 2
(HV2)
 Summary
Two aspects of DNA :
 The uniform nature of DNA in a single individual
 every cell in a body shares the same DNA
 The genetic variability between individual  The
chemical structure of DNA is the same, but the
order of the base pairs differs

 The unique signature found in each person’s

genetic makeup  DNA fingerprint