What is DNA?

DNA stands for deoxyribonucleic acid, the substance that makes up chromosomes and
carries the genetic code that determines the characteristics of all living things. In humans, it
determines such characteristics as eye color, hair texture, skin pigmentation, and the
propensity to develop, of be immune from, disease.
A DNA molecule comprises two long, interlocking chains. The links of the chains are called
bases, and the sequence of the bases is different in each person=s DNA, except in the cases
of identical twins. The bases are too small to be seen even with the most powerful
microscope, so it is not possible to compare one sequence to another visually. However, in
the early 1980s, a renowned British geneticist, Dr. Alec Jeffreys of the University of
Leicester, invented a radioactive probe that did the same thing: It made it possible to
capture a ADNA fingerprint@ on film.
The Jeffreys process used an enzyme as a sort of chemical scissors to cut the DNA chain at
specific points, known as restrictions sites. A restriction site is a specific sequence of six
bases, and there are tens of thousands of restriction sites in each chromosome. Their
distribution is unique for each person, except for, as noted, identical twins.
After the DNA is cut, the resulting fragments of the chain may be subjected to a technique
known as electrophoresis, in which electric current propels the fragments through a gel.
Because short fragments move faster than long ones, electrophoresis sorts the fragments
according to length.
The distribution of the varying lengths of fragments in a sample, similar to the distribution
of whorls and loops in a fingerprint, is said to be polymorphic, which means that it varies
significantly from person to person. Although the fragments are much larger than bases,
they are nonetheless invisible, like a fingerprint before dusting.
Jeffreys discovered that Once the fragments were sorted by electrophoresis, a series of
identical radioactive probes could be introduced. The probes, which Jeffreys patented, bind
only to a specific sequence of bases. Because there are thousands of fragments of varying
lengths in every sample, the specific sequence to which the radioactive probes could bind
inevitably were found in some DNA fragments but not in others.
Photographic film could then be exposed to the sample, and a distinctive pattern would
appear, resembling the bar code used to price items in a supermarket. The pattern showed
the distribution of the fragments, making it possible to compare the pattern in one sample
to that in another.
The pattern would be the same if the samples came from the same person, or an identical
twin, but different if the samples came from different persons. The chance of two unrelated
persons having the same pattern deduced by the Jeffrey=s probes was one in several billion.
The technique, known as RFLP, for restriction fragment length polymorphism, was

extremely useful and veritably infallible in determining the parentage because of children,
who inherit half of their DNA from each parent, but of limited use in forensic applications.
The reason was that RFLP analysis required high molecular weight DNA, or genetic
substance that had not lost mass through deterioration due to moisture, bacteria, or heat.
RFLP worked perfectly with fresh blood samples, normally available for paternity testing.
Trace evidence recovered at crime scenes or from crime victims was seldom pristine,
however, often not suitable for RFLP analysis.
A few years after Jeffreys developed RFLP, the Cetus Corporation of California developed
and patented a different technique of DNA analysis capable of obtaining a result from a
degraded sample and, thus, more amenable to forensic application. Instead of cutting DNA
into fragments, the technique induced a chemical chain reaction, which isolated a specific
sequence of genetic information and, literally, made copies of that sequence.
Known as PCR, for polymerase chain reaction, the Cetus technique initially was far less
exacting than RFLP. At the time it was patented in the mid-1980s, it was capable of
categorizing DNA into only 21 different types. The probability of a random match ranged
from one in seven for the largest category to one in 100,000 for the smallest. Over the next
decade, however, improvements in PCR raised its discernment significantly. By the mid1990s, the chance of a random match with PCR was one in billions.
Rob Warden