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Geneitc profiling (also called DNA Profiling, DNA testing, DNA typing, or genetic fingerprinting) is a technique employed by forensic scientists to assist in the identification of individuals by their respective DNA profiles. Genetic profiles are encrypted sets of numbers that reflect a person's DNA makeup, which can also be used as the person's identifier. Genetic profiling should not be confused with full genome sequencing. It is used in, for example, parent testing and criminal investigation.
Although 99.9% of human DNA sequences are the same in every person, enough of the DNA is different to distinguish one individual from another. Genetic profiling uses repetitive ("repeat") sequences that are highly variable, called variable number tandem repeats (VNTR). VNTRs loci are very similar between closely related humans, but so variable that unrelated individuals are extremely unlikely to have the same VNTRs.

The DNA profiling technique was first reported in 1984 by Sir Alec Jeffreys at the University of Leicester in England, and is now the basis of several national DNA databases. Dr. Jeffreys's genetic fingerprinting was made commercially available in 1987, when a chemical company, ICI, started a blood-testing centre in England.
The process begins with a sample of an individual's DNA (typically called a "reference sample"). The most desirable method of collecting a reference sample is the use of a buccal swab, as this reduces the possibility of contamination. When this is not available (e.g. because a court order may be needed and not obtainable) other methods may need to be used to collect a sample of blood, saliva, semen, or other appropriate fluid or tissue from personal items (e.g. toothbrush, razor, etc.) or from stored samples (e.g. banked sperm or biopsy tissue). Samples obtained from blood relatives (biological relative) can provide an indication of an individual's profile, as could human remains which had been previously profiled.

A reference sample is then analyzed to create the individual's Genetic "DNA" profile using one of a number of techniques, discussed below. The Genetic profile (DNA Profile) is then compared against another sample to determine whether there is a genetic match.
Genetic Profile
(jeh-NEH-tik PROH-file)

Information about specific genes, including variations and gene expression, in an individual or in a certain type of tissue. A genetic profile may be used to help diagnose a disease or learn how the disease may progress or respond to treatment with drugs or radiation.


Reproductive genetic testing includes:

(1) carrier testing, which is done to determine whether an individual carries one copy of an altered gene for a particular recessive condition;
(2) prenatal genetic testing, in which fetal cells obtained through procedures such as amniocentesis and chorionic villus sampling (CVS) are genetically tested; and
(3) preimplantation genetic diagnosis (PGD), in which embryos produced through in vitro fertilization are genetically tested to select which embryos to transfer to a womans uterus.
Reproductive genetic testing refers to those genetic tests and procedures that are used to provide prospective parents with information about their chances of having a child with a specific genetic disorder or characteristic in a current or future pregnancy.