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 bases

the sugar of one nucleotide

connect (C3) to the PO4 group
(C5) of an adjacent nucleotide
= phosphodiester bond

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
A

:: pyrimidine

:: T
2 H bonds
G :: C
3 H bonds

Two strands of DNA are

considered antiparalel,
because the polarity of each
strand is reversed relative to
each other a double helix

5 3

3 5

DNA structure

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
chromosomes (diploid), 23
maternal chromosomes
and 23 paternal
chromosomes
homologous pairs

female

Homologous chromosomes

Paired chromosomes
both

chromosomes of a pair carry genes

control same inherited characters

homologous = same information

diploid
2n

homologous
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
that affects other body
features unrelated to sex
Sex chromosome contain
genes that influence sex
traits and the development
of reproductive organs

female

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
Y chromosomes, called
SRY (sex-determining
region) determine an
embryo into a male or
female

female

Y Chromosome Structure
SRY

AMEL

~60 Mb total DNA sequence (only

chromosome 22 is smaller)
~2.5 Mb on tips recombine with X

(pseudoautosomal regions)

35-36 Mb euchromatin 9.5 Mb

sequenced (27%)

heterochromatin

Nucleic Acids Res. 28(2), e8 (2000)

Genetic variation at
multiple points along the Y
chromosome is combined
to form a Y haplotype for a
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
1

division
daughter cells
genetically identical to
parent cell
produces 2 cells
2n 2n
produces cells for
growth & repair
no crossing over

Meiosis
2

divisions
daughter cells
genetically different from
parent
produces 4 cells
2n 1n
produces gametes
crossing

over

Genetic variation : in human

Genetic variability in sexual reproduction

independent

homologous chromosomes in meiosis 1

crossing

metaphase1

over

between homologous chromosomes in prophase 1

random

assortment

fertilization

random ovum fertilized by a random sperm

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

from Mom

from Dad

new gametes
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

Mitochondria have
their own DNA

Mitochondrial DNA

Double Helix

Nuclear
Chromosomes

Mitochondrial DNA

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 individuals trait (phenoptype)

Gene

A gene is a sequence of nucleotides (1,0004,000 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

3
5

3
5

Intergenic DNA
Gene 1

Gene 2

Gene 1

Gene 2
Introns

5
3

Nucleus :
Eukaryotic genomes full of repeated DNA
Repeat Unit

Satellite DNA
Minisatellite DNA or
Variable Number of
Tandem Repeats (VNTR)
Microsatellite DNA or
Short Tandem Repeats

100 1000 bp

# Repeats
???

10 100 bp

7 - 80

2 6 bp

5 - >40

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..

Person 2 ..GCCAGCTAGCTAGCTAGCTAGCTTTCAT..

Person 3 ..GCCAGCTAGCTAGCTAGCTAGCTAGCTAGCTT..

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

3
5

3
5

Intergenic DNA
Gene 1

Gene 2

Gene 1

Gene 2
Introns

5
3

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

D5S818

D = DNA
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 persons

genetic makeup DNA fingerprint