DNA 32

Typing
Deoxyribonucleic Acid (DNA) is a large, polymeric molecule found in 3
virtually every cell in the body. Two significant exceptions are red blood cells and
nerve cells. Red cells are produced in bone marrow and have no need of DNA for
replication and nerve cells do not generally regenerate. DNA can be found in two
regions of a cell the nucleus and the mitochondria. Mitochondrial DNA has a
different structure from nuclear DNA and is inherited differently. Well discuss
this later in this chapter.
Nuclear DNA is a unique type of molecule. Its shape is called a double helix.
See Figure 14.1. Consider a very long ladder. This ladder has two poles connected
by many rungs. Each rung consists of two complementary pieces joined together.
Now take the ladder and twist it many times throughout its length until it
resembles a spiral staircase. This is the geometry of the DNA molecule. The
poles of the DNA molecule (called the backbone) are not forensically significant.
They are exactly the same in all people. The rungs are special, however. Each
rung is made up of two bases or nucleotides joined together in the middle as well as
to the poles, so each rung is made up of a base pair. These base pairs are
comprised of two of the following:

Adenine (A)
Thymine (T)
Guanine (G)
Cytosine (C)

Because of the complex chemical structure of the bases, only certain pairs
can join together. The rule is that adenine can only bond to thymine and
guanine can

T A
C G

Figure 14.1 DNA double helix. The four bases are adenine, thymine, guanine, and cytosine.
32 Forensic Science: The Basics,
4 Second Edition

A G C T A A A G C T C G
T C G A T T T C G A G C

Figure 14.2 A base pair sequence. Only A can pair with T and only C can pair with
G.

only bond to cytosine. No base can join with itself. A strand of DNA contains
mil- lions of base pairs and the rules can never be violated. Figure 14.2 shows a
portion of a DNA strand with some representative base pairs.
Notice that base pairs will often repeat themselves. This is illustrated by the T
A pair repeating three times in the DNA strand in Figure 14.2. The order of the
base pairs seems to be random, but in most cases, it is not. The repeats are
important and the overall order of the base pairs throughout DNA is very
significant. It comprises a genetic code that directs the body to ultimately build
proteins that are the building blocks for all human organs and tissues. This code
literally makes us who and what we are. Since the DNA comes equally from both
parents, we inherit their character- istics according to certain rules of inheritance
or laws of genetics.

Cellular DNa
Nuclear DNA is arranged in structures called chromosomes. Human beings have
46 chromosomes. They are arranged in 23 pairs. Each parent supplies one
member of each of the 23 pairs. It is through the chromosomes that each person
inherits physi- cal, mental, and emotional characteristics from both parents.
These characteristics are defined within a genetic code contained within
portions of the chromosomes called genes. A gene is a part of a chromosome
consisting of a sequence of base pairs. These sequences ultimately tell the cell
what proteins to manufacture that result in expression of characteristics such as
eye color, gender, height, etc. The loca- tion where a gene (or other sequence of
interest) is found on a chromosome is called its locus. The human genome contains
more than 100,000 genes. For example, there are genes that determine the color of
ones hair. Since different people have different hair colors, there must be some
variations within the hair color genes that result in the different hair colors in a
population. These variations in characteristics are due to differences in the
genetic code caused by differences in the order of the base pair sequences. A gene
that exists in more than one form is referred to as polymorphic. The different
forms of genes are called alleles. Thus, there is an allele for brown hair, red
hair, etc. Some hair colors are intermediate between pure colors because a person
inherits different alleles from each parent. If an individual inherits the same allele
for a particular characteristic from both parents, he is said to be homozygous with
respect to that gene. If he receives a different allele from each parent then he is
heterozygous with respect to that gene. Figure 14.3 shows how both parents con-
tribute one chromosome of each of the 23 pairs to the offspring.
If a person inherits a gene from a parent that codes for brown hair and one from
the other parent that codes for blond hair, she will usually have brown hair. This is
because the allele for brown hair is dominant and the allele for blond hair is
recessive.
There are two types of polymorphism in genes. The first is called sequence
polymorphism. This occurs when there is a difference in one or more base
pairs within a gene. Examine the base pair sequence in the short strand of DNA
shown below. Note the difference in the base pair at the position marked by the
arrow. The two sequences are identical except for that single base pair.
DNA 32
Typing 5

Sperm

Ovum

Newly Fertilized Egg

Figure 14.3 The sperm contains 23 chromosomes from the father. The egg (ovum) contains 23
cor- responding chromosomes from the mother. When the sperm fertilizes the egg, the
chromosomes and the new cell contain 23 pairs of chromosomes.

C T C G A T T A A G G C T C G G T T A A G G
: : : : : : : : : : and : : : : : : : : : : :
G A G C T A A T T C C G A G C C A A T T C C

The other type of polymorphism is called length polymorphism. This

occurs in strands of DNA in which repeating sequences of base pairs are
encountered. Examine the DNA strands below.

C A T G T A C - C A T G T A C
: : : : : : : : : : : : : :
G T A C A T G - G T A C A T G

C A T G T A C - C A T G T A C - C A T G T A C - C A T G T A C
: : : : : : : : : : : : : : : : : : : : : : : : : : : :
G T A C A T G - G T A C A T G - G T A C A T G - G T A C A T G

C A T G T A C - C A T G T A C - C A T G T A C - C A T G T A C - C A T G T A C
: : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : : :
G T A C A T G - G T A C A T G - G T A C A T G - G T A C A T G - G T A C A T G

All three of the strands contain the base pair sequence:

C A T G T A C
: : : : : : :
G T A C A T G

In the first strand, the sequence repeats twice. In the second strand, the
same sequence repeats four times, and in the third strand, five times. Because the
repeats occur right next to each other without any intervening base pairs, they are
referred to as tandem repeats. Length and sequence polymorphism are
very impor- tant in distinguishing one persons DNA from another because
certain strands of DNA may differ from one person to the next only by a small
sequence or length polymorphism.
32 Forensic Science: The Basics,
6 Second Edition

Interpreting DNa Evidence: Population

Genetics
When forensic scientists compare DNA from biologic evidence at a crime scene
with known DNA from a suspect or victim, they compare many sites on several
chromo- somes to look for similarities or differences. They focus on length or
sequence poly- morphisms because these are the parts of the DNA that
differentiate people. More than 99 percent of every human beings DNA is
identical. All of the differences in DNA from one person to another represent less
than 1 percent of his or her DNA.
Scientists look for similarities on all of the chromosomes. There are many
poly- morphisms scattered throughout the human genome. The more
polymorphic sites that are located and have the same form of biologic evidence
and the DNA of a sus- pect or victim, the more likely it is that the DNA from the
evidence came from that victim or suspect. This can be explained by probabilities.
Probability measures the likelihood that one event will occur among several
possibilities. A common exam- ple can be found in flipping coins. There are two
possible outcomes from flipping a coinheads (H) or tails (T). Since they are
equally likely of occurring, the prob- ability of getting heads is or 0.5. Suppose
a coin is flipped twice. What are the odds that it will come up heads both times?
There are four possible outcomes from flipping a coin twice: HH, HT, TH, and
TT. Each of these possibilities has an equal likelihood of occurring since a coin
has no memory of how it lands on each flip. Thus, the probability that it will come
up heads both times (HH) is or .25. This number can be arrived at using the
product rule. This rule states that the probabil- ity of two or more independent
events occurring is the product of the probabilities of each event. Thus the
probability of two coin flips coming up heads is x = because the
probability of heads coming up on one flip is and on the other flip, . Likewise,
the probability of getting heads three times in a row is /8 or 0.125. This is
because there are eight possibilities that can occur when a coin is flipped three
times: HHH, HHT, HTH, TTH, HTT, THT, THH, TTT. Only one
of these possibilities (HHH) results in getting heads all three times. The more
times a coin is flipped, the less chance that any particular outcome will occur. It
is very important that each event is independent of the others or the rule will not
apply.

Something for You to Do

Take a deck of 52 cards. How many different cards are there and how many of each card are there in a full deck? What
is the probability that a card drawn at random will be an ace? Now what is the probability that the next card you draw
will also be an ace? Remember how many cards are left and how many aces are left in the deck if you draw an ace on the
first try. Using probabilities, you can calculate the chances of getting dealt any poker or blackjack hand.
The proprietors of gambling casinos determine their payouts on various games of chance by the probabilities of your
drawing each kind of hand and the chances that you will beat the house on each type of game. For example, a roulette
wheel contains the numbers 1 through 36 plus a 0 and 00. If you bet $1 on any number and the payoff for hitting that
number is $36, you will eventually lose your money because the probability of hitting a given number on a spin of the
wheel is 38 to 1. If you bet $1 on the number 7 every time, it should come up once on the average of every 38 spins. If
it comes up on the 38th spin, you have bet $38 and you finally get back $36 for hitting the number. Over time, you have
to lose.
Going back to the coin flip, what are the odds of getting a tails ten times in a row? It is more than a 1000 to 1. One
way to visualize this is that you would have to make more than 1000 tries at flipping a coin 10 times to ensure on the
average that one of those tries would give 10 straight tails.

Forensic scientists use probabilities in a similar way when interpreting the

likeli- hood that a sample of DNA came from a particular person. At each locus
(the base pair sequence) where the DNA type is to be analyzed, scientists have
determined the population frequency of that allele. If there are, for example,
fifteen possible alleles at a particular locus, the percent of the human population
that has each of these types will be known. Unlike with coin flips, the
32 Forensic Science: The Basics,
6 probability that any one of those fifteen Second Edition
alleles will occur is not the same as for
the other alleles. Some are more
common than others and scientists have to determine the
population frequency of all of them. Today, the major worldwide
protocol for the analysis of DNA for compari- son purposes utilizes a
set of thirteen loci for which the frequency of each allele at each site
is known. The product rule can be used to determine the overall
probabil- ity of having all of these alleles. As will be explained later,
these probabilities are extremely small.