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DNA profiling

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DNA profiling is the process of identifying an individual's unique deoxyribonucleic acid (DNA) characteristics.

DNA double helix horizontal
DNA double helix horizontal

While 99.9% of human DNA sequences are identical across the entire species, enough variation exists to distinguish one person from another. This is possible because of highly variable repetitive sequences found in certain regions of the genome. These patterns are unique to every individual, with the exception of monozygotic, or identical, twins. DNA profiling serves many vital roles in modern society. It is a key forensic technique used in criminal investigations to assess the likelihood of a suspect's involvement. It is also used for paternity testing, establishing immigration eligibility, and conducting medical or genealogical research. Beyond humans, it helps scientists study plant and animal populations in fields like botany and zoology.

The process begins with DNA extraction to isolate the genetic material from a sample like blood or saliva. Because DNA is only a tiny part of a biological sample, it must be purified. Scientists must break up the cell and nuclear membranes to release the DNA into a solution. Once free, the DNA is separated from other cellular components and debris. Common laboratory methods for this include organic extraction, Chelex extraction, and solid-phase extraction. Some scientists use differential extraction to separate DNA from two different types of cells before purification. Analysts choose their specific method based on the cost, time, and the quality or quantity of DNA they need to yield.

Historically, scientists used a method called restriction fragment length polymorphism (RFLP) to analyze DNA. RFLP uses restriction enzymes to cut the DNA at specific, short sequences throughout the sample. After the enzymes digest the DNA, a process called a Southern Blot is performed. This is a size-based separation method using a gel with radioactive or chemiluminescent probes. While RFLP was an important early technology, it could take several days or even a week to complete one sample. Modern science has largely moved toward more efficient technologies, such as Short Tandem Repeat (STR) analysis.

Restriction Fragment Length Polymorphism
Restriction Fragment Length Polymorphism

In 1984, British geneticist Sir Alec Jeffreys discovered DNA profiling while working at the University of Leicester.

Alec Jeffreys -2008
Alec Jeffreys -2008

He realized that certain regions of DNA contain highly variable repetitive sequences that create unique patterns. Jeffreys developed this technique alongside Peter Gill and Dave Werrett of the Forensic Science Service (FSS). This discovery had an immediate and profound impact on criminal justice. The first major forensic use occurred during an investigation into the murders of two teenagers in Narborough, Leicestershire, in 1983 and 1986.

In that case, Detective David Baker led an inquiry involving blood samples from approximately 5,000 local men. This massive effort helped exonerate an initial suspect named Richard Buckland. It eventually led to the conviction of Colin Pitchfork on January 2, 1988. Pitchfork had attempted to deceive police by having a coworker impersonate him during blood testing. However, his DNA profile matched the evidence left at the crime scenes. This landmark case proved the power of genetic evidence in a court of law.

Today, the most common method for profiling is based on the Polymerase Chain Reaction (PCR). Developed by Kary Mullis in 1983, PCR is a technique used to amplify, or make many copies of, a specific DNA sequence. The process involves three distinct steps. First is denaturation, where DNA is heated to 95 °C to separate the double strands. Second is annealing, where the mixture is cooled to 50-65 °C so primers can attach to the template. Finally, extension occurs at 72 °C using a thermostable enzyme called Taq polymerase to build the new DNA strands.

Short Tandem Repeat (STR) analysis
Short Tandem Repeat (STR) analysis

Modern profiling specifically targets Short Tandem Repeats (STRs), which are also known as microsatellites. These are highly variable sequences that differ in length between individuals. The statistical power of STR analysis is immense because these loci are independently assorted. In North America, the CODIS system uses 20 core loci to identify individuals. By using the product rule for probabilities, scientists can generate match probabilities as high as 1 in a quintillion. This level of precision makes DNA profiling one of the most reliable tools in science and law.

CBP chemist reads a DNA profile
CBP chemist reads a DNA profile

DNA profiling also extends into specialized areas of genetic study. Y-chromosome analysis provides information about paternal ancestry because the Y-chromosome is inherited from fathers. To support this, the Y haplotype reference database (YHRD) was created in 2000 to store over 300,000 haplotypes. Additionally, mitochondrial DNA (mtDNA) analysis can be used to study older samples like hair shafts or ancient bones. These various methods allow scientists to connect human history, forensic science, and the study of all living organisms.

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🖼️ Images & Media (7)
File:DNA double helix horizontal.png
DNA double helix horizontal.png
File:Alec Jeffreys -2008.jpg
Alec Jeffreys -2008.jpg
File:D1S80Demo.png
D1S80Demo.png
File:Restriction Fragment Length Polymorphism.jpg
Restriction Fragment Length Polymorphism.jpg
File:Polymerase chain reaction.svg
Polymerase chain reaction.svg
File:Short Tandem Repeat (STR) analysis.png
Short Tandem Repeat (STR) analysis.png
File:CBP chemist reads a DNA profile.jpg
CBP chemist reads a DNA profile.jpg
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