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DNA paternity testing

DNA matching techniques to identify someone's father

DNA paternity testing uses DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be essential when the rights and duties of the father are in issue, and a child's paternity is in doubt. Tests can also determine the likelihood of someone being a biological grandparent. Though genetic testing is the most reliable standard, older methods also exist, including ABO blood group typing, analysis of various other proteins and enzymes, or using human leukocyte antigen antigens. The current paternity testing techniques are polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still pregnant from a blood draw.

DNA testing is currently the most advanced and accurate technology to determine parentage. In a DNA paternity test, the result (called the 'probability of parentage) is 0% when the alleged parent is not biologically related to the child, and the probability of parentage is typically 99.99% when the alleged parent is biologically related to the child. However, while almost all individuals have a single and distinct set of genes, rare individuals, known as "chimeras", have at least two different sets of genes. This can lead to complications during DNA analysis, such as false negative results if their reproductive tissue has a different genetic makeup from the tissue sampled for the test.

01Paternity or maternity testing for child or adult

The DNA test is conducted by collecting buccal (cheek) cells found on the inside of a person's cheek using a buccal or cheek swab. These swabs have handles made of wood or plastic with a cotton synthetic tip. The collector rubs the inside of a person's cheek to collect as many buccal cells as possible, which are then sent to a laboratory for testing. Samples from both the alleged father or mother and the child are required for the test.

Example of DNA profiling in order to determine the father of a child (Ch). Child's DNA sample should contain a mixture of different size DNA bands of both parents. In this case, person #1 is likely the father.
Example of DNA profiling in order to determine the father of a child (Ch). Child's DNA sample should contain a mixture of different size DNA bands of both parents. In this case, person #1 is likely the father.

02Prenatal paternity testing for unborn child

Invasive prenatal paternity testing

It is possible to determine who the biological father of the fetus is while the woman is still pregnant through a procedure known as chorionic villus sampling or amniocentesis. Chorionic villus sampling retrieves placental tissue, which can be done either through the cervix (transcervical) or the abdominal wall (transabdominal). Amniocentesis involves collecting amniotic fluid by inserting a needle through the pregnant mother's abdominal wall. Both procedures are highly accurate because they obtain samples directly from the fetus. However, there is a small risk of miscarriage associated with them, which could result in the loss of the pregnancy. Both CVS and amniocentesis require the pregnant woman to consult a maternal-fetal medicine specialist who will perform the procedure. CVS testing can be taken from as early as 10 weeks into pregnancy and an amniocentesis test can be performed between 14 and 20 weeks of pregnancy.

Non-invasive prenatal paternity testing

Recent advances in genetic testing have led to the ability to identify the biological father while the woman is still pregnant. A small quantity of cell-free fetal DNA (cffDNA) is present in the mother's blood during pregnancy. This allows for accurate paternity testing during pregnancy from a blood draw without any risk of miscarriage. Research indicates that cffDNA can first be detected as early as seven weeks into the pregnancy, and its quantity increases as the pregnancy continues.

03DNA profiling

The DNA of an individual is identical in all somatic (non reproductive) cells. During sexual reproduction, the DNA from both parents combines to create a unique genetic makeup in a new cell. As a result, an individual's genetic material is derived equally from each parent. This genetic material is referred to as the nuclear genome because it is located in the nucleus of a cell.

Autosomal DNA testing allows for a comparison between the child's DNA, the mother's DNA, and the alleged father's DNA. By examining the genetic contribution from the mother, researchers can determine possible genotypes for the actual father. Specific sequences are examined to see if they were copied verbatim from one individual's genome; if so, then the genetic material of one individual could have been derived from that of the other (i.e. one is the parent of the other). If the alleged father cannot be excluded as the true father, then statistical analysis can be performed to assess how likely it is that the alleged father is the true father compared to a random man.

In addition to nuclear DNA, mitochondria contain their own genetic material known as mitochondrial DNA. This mitochondrial DNA is inherited solely from the mother and is passed down without any mixing. As a result, establishing a relationship through the comparison of the mitochondrial genome is generally easier than doing so with the nuclear genome. However, testing the mitochondrial DNA can only confirm whether two individuals share a maternal ancestry; it cannot be used to determine paternity. Therefore, its application is somewhat limited.

In testing the paternity of a male child, the Y chromosome can be used for comparison, as it is inherited directly from father to son. Like mitochondrial DNA, the Y chromosome is passed down through the paternal line. This means that the two brothers share the same Y chromosome from their father. Therefore, if one brother is the alleged father, his biological brother could also be the father based solely on Y chromosomal data. This holds true for any male relative related to the suspected father along the paternal line. For this reason, autosomal DNA testing would provide a more accurate method for determining paternity.

In the US, the AABB has established regulations for DNA paternity and family relationship testing, although AABB accreditation is not mandatory. DNA test results can be considered legally admissible if the collection and processing adhere to a proper chain of custody. Similarly, in Canada, the SCC has regulations on DNA paternity and relationship testing, while accreditation is recommended, it is not required.

The Paternity Testing Commission of the International Society for Forensic Genetics is responsible for creating biostatistical recommendations by the ISO/IEC 17025 standards. Biostatistical evaluations of paternity should be based on the likelihood ratio principle, resulting in the Paternity Index (PI). These recommendations offer guidance on the concepts of genetic hypotheses, calculation concerns necessary for producing valid PIs, as well as addressing specific issues related to population genetics.

04History

The earliest method of parental testing was blood typing, relying on the inheritance of blood types, which were discovered in 1901. Scientists realized that blood types were genetically inherited in the 1920s, leading to the use of blood typing as a method of excluding or confirming possible paternity. In blood typing, the blood types, of the child and the alleged parents are compared to assess the possibility of a parental linkage. For instance, two type O parents can only have type O children, while type B parents can have type B or O offspring. However, this method was limited, excluding about 30% of potential parents based solely on blood type.

In the 1930s, serological testing improved the process by examining proteins in the blood, with an exclusion rate of around 40%. The 1960s brought Human Leukocyte Antigen (HLA) typing, which compared genetic markers in white blood cells, achieving about 80% accuracy but struggling to differentiate between close relatives.

The 1970s saw advancements with the discovery of restriction enzyme, leading to Restriction Fragment Length Polymorphism ( RFLP) testing in the 1980s, which offered high accuracy. By the 1990s, Polymerase Chain Reaction (PCR) became the standard, providing faster, simpler, and more accurate results with exclusion rates of 99.99% or higher, revolutionizing parental testing in both legal and familial matters.

07Reverse paternity testing

Reverse paternity determination is the ability to establish the biological father when the father of that person is not available. The test uses the STR alleles in the mother and her child, other children and brothers of the alleged father, and the deduction of the genetic constitution of the father by the basis of genetic laws, all to create a rough amalgamation. This can compare the father's DNA when a direct sample of the father's DNA is unavailable. An episode of Solved shows this test being used to know if a blood sample matches the victim of a kidnapping.

Watch videos about DNA paternity testingExplainers and documentaries on YouTube (opens in a new tab)

Sources and credits

This article is adapted from the Wikipedia article DNA paternity testing, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.

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