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paternity testing DNA paternity testing is the use of DNA profiles to determine whether an individual is the biological parent of another individual. Paternity testing can be especially important when the rights and duties of the father are in issue and a child ...
, Paternity Index (PI) is a calculated value generated for a single
genetic marker A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species. It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be ...
or
locus Locus (plural loci) is Latin for "place". It may refer to: Entertainment * Locus (comics), a Marvel Comics mutant villainess, a member of the Mutant Liberation Front * ''Locus'' (magazine), science fiction and fantasy magazine ** ''Locus Award' ...
(chromosomal location or site of DNA sequence of interest) and is associated with the statistical strength or weight of that locus in favor of or against parentage given the phenotypes of the tested participants and the inheritance scenario.
Phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological proper ...
''typically'' refers to physical characteristics such as body plan, color, behavior, etc. in organisms. However, the term used in the area of DNA paternity testing refers to what is observed directly in the laboratory. Laboratories involved in parentage testing and other fields of human identity employ genetic testing panels that contain a battery of loci (plural for locus) each of which is selected due to extensive
allelic An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...
variations within and between populations. These genetic variations are not assumed to bestow physical and/or behavioral attributes to the person carrying the allelic arrangement(s) and therefore are not subject to selective pressure and follow Hardy Weinberg inheritance patterns. The product of the individual PIs is the CPI (Combined Paternity Index) which is ultimately used to calculate the Probability of Paternity seen on paternity test reports. Minimum Probability of Paternity value requirements for state cases differ between states but the AABB requires in their Standards for Relationship Testing Laboratories (currently in the 9th edition) a minimum of 99.0% be reported where the tested man is ‘not excluded’ as the biological father of the child in question. U.S. Department of State requires a minimum Probability of Paternity of 99.5% for all immigration cases. PI calculations utilize
allele frequencies Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a population, expressed as a fraction or percentage. Specifically, it is the fraction of all chromosomes in the population that ...
generated from established population databases most commonly using
Short Tandem Repeats A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. ...
. Because allele frequencies can be either generated in-house or published, PI’s can differ between companies. This is an understood phenomenon and justifiable amongst members of the testing community.


Calculations

The PI is a likelihood ratio that is generated by comparing two probabilities where PI = X / Y: #
Numerator A fraction (from la, fractus, "broken") represents a part of a whole or, more generally, any number of equal parts. When spoken in everyday English, a fraction describes how many parts of a certain size there are, for example, one-half, eight ...
(“X”) – The
probability Probability is the branch of mathematics concerning numerical descriptions of how likely an Event (probability theory), event is to occur, or how likely it is that a proposition is true. The probability of an event is a number between 0 and ...
that we observe the phenotypes of the tested participants in the inheritance scenario given that the tested man is the true biological father. More simply, the probability that some event will occur given a certain set of circumstances or conditions. This calculation assumes that the individuals tested are a “true trio/duo” (which is explained two paragraphs down) or in other words, the parent(s) tested are the true biological parents. #
Denominator A fraction (from la, fractus, "broken") represents a part of a whole or, more generally, any number of equal parts. When spoken in everyday English, a fraction describes how many parts of a certain size there are, for example, one-half, eight ...
(“Y”) – The probability that we observe the phenotypes of the tested participants in the inheritance scenario given that a random man is the true biological father. More simply, the probability that some event will occur given a different set of circumstances or conditions. This calculation assumes that the individuals tested are a “false trio/duo” or in other words, the parent(s) tested are not the true biological parents. In general, X / Y can be translated as: ''It is X / Y times more likely to see the observed phenotypes if the tested man is the true biological father than if an untested, unrelated randomly selected man from the same racial population was the true biological father.'' There are 14 possible trio paternity combinations and 5 possible duo paternity combinations.


See also

*
Combined DNA Index System The Combined DNA Index System (CODIS) is the United States national DNA database created and maintained by the Federal Bureau of Investigation. CODIS consists of three levels of information; Local DNA Index Systems (LDIS) where DNA profiles orig ...
*
International Society for Forensic Genetics The International Society for Forensic Genetics – ISFG is an international non-profit scientific society founded in 1968. The main goal of the society is to advance the field of forensic genetics, also termed DNA profiling, through disseminatio ...


References


Further reading

* * * * * * * *Brenner CH (1999) Kinship Analysis by DNA When There Are Many Possibilities, Progress in Forensic Genetics 8, Eds G Sensabaugh et al. * *{{cite journal , pmid=10356771 , year=1999 , last1=Thomson , first1=JA , last2=Pilotti , first2=V , last3=Stevens , first3=P , last4=Ayres , first4=KL , last5=Debenham , first5=PG , title=Validation of short tandem repeat analysis for the investigation of cases of disputed paternity , volume=100 , issue=1–2 , pages=1–16 , journal=Forensic Science International , doi=10.1016/S0379-0738(98)00199-6


External links


aabb.org

International Society of Forensic Genetics



STRBase



University of North Texas Health Sciences Center Graduate School of Biomedical Sciences Forensic and Investigative Genetics
DNA profiling techniques Forensic genetics