In paternity testing, Paternity Index (PI) is a calculated value generated for a single genetic marker or locus (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 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 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) [1] 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. [2]
PI calculations utilize allele frequencies generated from established population databases [3] most commonly using Short Tandem Repeats. [3]
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.[ citation needed ]
The PI is a likelihood ratio [4] that is generated by comparing two probabilities where PI = X / Y:
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. [5]
An allele, or allelomorph, is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule.
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists.
DNA profiling is the process of determining an individual's deoxyribonucleic acid (DNA) characteristics. DNA analysis intended to identify a species, rather than an individual, is called DNA barcoding.
Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and population structure.
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'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 techniques for paternity testing are using 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.
Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be more linked than markers that are far apart. In other words, the nearer two genes are on a chromosome, the lower the chance of recombination between them, and the more likely they are to be inherited together. Markers on different chromosomes are perfectly unlinked, although the penetrance of potentially deleterious alleles may be influenced by the presence of other alleles, and these other alleles may be located on other chromosomes than that on which a particular potentially deleterious allele is located.
A haplotype is a group of alleles in an organism that are inherited together from a single parent.
A quantitative trait locus (QTL) is a locus that correlates with variation of a quantitative trait in the phenotype of a population of organisms. QTLs are mapped by identifying which molecular markers correlate with an observed trait. This is often an early step in identifying the actual genes that cause the trait variation.
"Human Genetic Diversity: Lewontin's Fallacy" is a 2003 paper by A. W. F. Edwards. He criticises an argument first made in Richard Lewontin's 1972 article "The Apportionment of Human Diversity", that the practice of dividing humanity into races is taxonomically invalid because any given individual will often have more in common genetically with members of other population groups than with members of their own. Edwards argued that this does not refute the biological reality of race since genetic analysis can usually make correct inferences about the perceived race of a person from whom a sample is taken, and that the rate of success increases when more genetic loci are examined.
A Y-STR is a short tandem repeat (STR) on the Y-chromosome. Y-STRs are often used in forensics, paternity, and genealogical DNA testing. Y-STRs are taken specifically from the male Y chromosome. These Y-STRs provide a weaker analysis than autosomal STRs because the Y chromosome is only found in males, which are only passed down by the father, making the Y chromosome in any paternal line practically identical. This causes a significantly smaller amount of distinction between Y-STR samples. Autosomal STRs provide a much stronger analytical power because of the random matching that occurs between pairs of chromosomes during the zygote-making process.
Genetic distance is a measure of the genetic divergence between species or between populations within a species, whether the distance measures time from common ancestor or degree of differentiation. Populations with many similar alleles have small genetic distances. This indicates that they are closely related and have a recent common ancestor.
Shorttandemrepeat (STR) analysis is a common molecular biology method used to compare allele repeats at specific loci in DNA between two or more samples. A short tandem repeat is a microsatellite with repeat units that are 2 to 7 base pairs in length, with the number of repeats varying among individuals, making STRs effective for human identification purposes. This method differs from restriction fragment length polymorphism analysis (RFLP) since STR analysis does not cut the DNA with restriction enzymes. Instead, polymerase chain reaction (PCR) is employed to discover the lengths of the short tandem repeats based on the length of the PCR product.
Ranajit Chakraborty was a human and population geneticist. At the time of his death, he was Director of the Center for Computational Genomics at the Institute of Applied Genetics and Professor in the Department of Forensic and Investigative Genetics at the University of North Texas Health Science Center in Fort Worth, Texas. His scientific contributions include studies in human genetics, population genetics, genetic epidemiology, statistical genetics, and forensic genetics.
Marker assisted selection or marker aided selection (MAS) is an indirect selection process where a trait of interest is selected based on a marker linked to a trait of interest, rather than on the trait itself. This process has been extensively researched and proposed for plant- and animal- breeding.
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 originate, State DNA Index Systems (SDIS) which allows for laboratories within states to share information, and the National DNA Index System (NDIS) which allows states to compare DNA information with one another.
Forensic statistics is the application of probability models and statistical techniques to scientific evidence, such as DNA evidence, and the law. In contrast to "everyday" statistics, to not engender bias or unduly draw conclusions, forensic statisticians report likelihoods as likelihood ratios (LR). This ratio of probabilities is then used by juries or judges to draw inferences or conclusions and decide legal matters. Jurors and judges rely on the strength of a DNA match, given by statistics, to make conclusions and determine guilt or innocence in legal matters.
A human disease modifier gene is a modifier gene that alters expression of a human gene at another locus that in turn causes a genetic disease. Whereas medical genetics has tended to distinguish between monogenic traits, governed by simple, Mendelian inheritance, and quantitative traits, with cumulative, multifactorial causes, increasing evidence suggests that human diseases exist on a continuous spectrum between the two.
DNA profiling is the determination of a DNA profile for legal and investigative purposes. DNA analysis methods have changed countless times over the years as technology changes and allows for more information to be determined with less starting material. Modern DNA analysis is based on the statistical calculation of the rarity of the produced profile within a population.
This glossary of genetics and evolutionary biology is a list of definitions of terms and concepts used in the study of genetics and evolutionary biology, as well as sub-disciplines and related fields, with an emphasis on classical genetics, quantitative genetics, population biology, phylogenetics, speciation, and systematics. It has been designed as a companion to Glossary of cellular and molecular biology, which contains many overlapping and related terms; other related glossaries include Glossary of biology and Glossary of ecology.