Coefficient of relationship

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The coefficient of relationship is a measure of the degree of consanguinity (or biological relationship) between two individuals. The term coefficient of relationship was defined by Sewall Wright in 1922, and was derived from his definition of the coefficient of inbreeding of 1921. The measure is most commonly used in genetics and genealogy. A coefficient of inbreeding can be calculated for an individual, and is typically one-half the coefficient of relationship between the parents.

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In general, the higher the level of inbreeding the closer the coefficient of relationship between the parents approaches a value of 1, expressed as a percentage, [lower-alpha 1] and approaches a value of 0 for individuals with arbitrarily remote common ancestors.

Coefficient of relationship

The coefficient of relationship () between two individuals B and C is obtained by a summation of coefficients calculated for every line by which they are connected to their common ancestors. Each such line connects the two individuals via a common ancestor, passing through no individual which is not a common ancestor more than once. A path coefficient between an ancestor A and an offspring O separated by generations is given as:

where and are the coefficients of inbreeding for A and O, respectively.

The coefficient of relationship is now obtained by summing over all path coefficients:

By assuming that the pedigree can be traced back to a sufficiently remote population of perfectly random-bred stock (fA = 0 for all A in the sum) the definition of r may be simplified to

where p enumerates all paths connecting B and C with unique common ancestors (i.e. all paths terminate at a common ancestor and may not pass through a common ancestor to a common ancestor's ancestor), and L(p) is the length of the path p.

To give an (artificial) example: Assuming that two individuals share the same 32 ancestors of n = 5 generations ago, but do not have any common ancestors at four or fewer generations ago, their coefficient of relationship would be

, which for n = 5, is, , or approximately 0.0313 or 3%.

Individuals for which the same situation applies for their 1024 ancestors of ten generations ago would have a coefficient of r = 2−10 = 0.1%. If follows that the value of r can be given to an accuracy of a few percent if the family tree of both individuals is known for a depth of five generations, and to an accuracy of a tenth of a percent if the known depth is at least ten generations. The contribution to r from common ancestors of 20 generations ago (corresponding to roughly 500 years in human genealogy, or the contribution from common descent from a medieval population) falls below one part-per-million.

Human relationships

Diagram of common family relationships, where the area of each colored circle is scaled according to the coefficient of relatedness. All relatives of the same relatedness are included together in one of the gray ellipses. Legal degrees of relationship can be found by counting the number of solid-line connections between the self and a relative. Coefficient of relatedness.png
Diagram of common family relationships, where the area of each colored circle is scaled according to the coefficient of relatedness. All relatives of the same relatedness are included together in one of the gray ellipses. Legal degrees of relationship can be found by counting the number of solid-line connections between the self and a relative.

The coefficient of relationship is sometimes used to express degrees of kinship in numeric terms in human genealogy.

In human relationships, the value of the coefficient of relationship is usually calculated based on the knowledge of a full family tree extending to a comparatively small number of generations, perhaps of the order of three or four. As explained above, the value for the coefficient of relationship so calculated is thus a lower bound, with an actual value that may be up to a few percent higher. The value is accurate to within 1% if the full family tree of both individuals is known to a depth of seven generations. [lower-alpha 3]

A first-degree relative (FDR) is a person's parent (father or mother), full sibling (brother or sister) or offspring. [1] It constitutes a category of family members that largely overlaps with the term nuclear family, but without spouses. [2] If the persons are related by blood, the first degree relatives share approximately 50% of their genes. First-degree relatives are a common measure used to diagnose risks for common diseases by analyzing family history. [3]

A second-degree relative (SDR) is someone who shares 25% of a person's genes. It includes uncles, aunts, nephews, nieces, grandparents, grandchildren, half-siblings, and double cousins. [4] [5] [6]

Third-degree relatives are a segment of the extended family and includes first cousins, great-grandparents and great-grandchildren. [7] Third-degree relatives are generally defined by the expected amount of genetic overlap that exists between two people, with the third-degree relatives of an individual sharing approximately 12.5% of their genes. [8] The category includes great-grandparents, great-grandchildren, grand-uncles, grand-aunts, first cousins, [9] half-uncles, half-aunts, half-nieces and half-nephews.

Degree of relationshipRelationshipCoefficient of relationship (r)
0identical twins; clones100% [10] (1)
1mother / father / daughter / son [11] 50% (2−1)
1parent's identical twin / identical twin's child50% (2−1)
2half-sister / half-brother25% (2−2)
2full sister / full brother50% (2⋅2−2)
23/4-sister / 3/4-brother37.5% (2−2+2−3)
2grandmother / grandfather / granddaughter / grandson25% (2−2)
3half-aunt / half-uncle / half-niece / half-nephew12.5% (2−3)
3aunt / uncle / niece / nephew25% (2⋅2−3)
4half-first cousin6.25% (2−4)
4first cousin12.5% (2⋅2−4)
4sesqui-first cousin18.75% (3⋅2−4)
4double-first cousin25% (4⋅2−4)
3great-grandmother / great-grandfather / great-granddaughter / great-grandson12.5% (2−3)
4half-grandaunt / half-granduncle / half-grandniece / half-grandnephew6.25% (2−4)
4grandaunt / granduncle / grandniece / grandnephew12.5% (2⋅2−4)
5half-first cousin once removed3.125% (2−5)
5first cousin once removed6.25% (2⋅2−5)
5sesqui-first cousin once removed9.375% (3⋅2−5)
5double-first cousin once removed12.5% (4⋅2−5)
6half-second cousin1.5625% (2−6)
6second cousin3.125% (2⋅2−6)
6sesqui-second cousin4.6875% (3⋅2−6)
6double-second cousin6.25% (4⋅2−6)
6sester-second cousin7.8125% (5⋅2−6)
6triple-second cousin9.38% (6⋅2−6)
6sesqua-second cousin10.9375% (7⋅2−6)
6quadruple-second cousin12.5% (8⋅2−6)
4great-great-grandmother / great-great-grandfather / great-great-granddaughter / great-great-grandson6.25% (2−4)
5half-great-grandaunt / half-great-granduncle / half-great-grandniece / half-great-grandnephew3.125% (2−5)
5great-grandaunt / great-granduncle / great-grandniece / great-grandnephew6.25% (2⋅2−5)
6half-first cousin twice removed1.5625% (2−6)
6first cousin twice removed3.125% (2⋅2−6)
6sesqui-first cousin twice removed4.6875% (3⋅2−6)
6double-first cousin twice removed6.25% (4⋅2−6)
7half-second cousin once removed0.78125% (2−7)
7second cousin once removed1.5625% (2⋅2−7)
7sesqui-second cousin once removed2.34375% (3⋅2−7)
7double-second cousin once removed3.125% (4⋅2−7)
7sester-second cousin once removed3.90625% (5⋅2−7)
7triple-second cousin once removed4.6875% (6⋅2−7)
7sesqua-second cousin once removed5.46875% (7⋅2−7)
7quadruple-second cousin once removed6.25% (8⋅2−7)
8third cousin0.78125% (2⋅2−8)
5great-great-great-grandmother / great-great-great-grandfather / great-great-great-granddaughter / great-great-great-grandson3.125% (2−5)
6half-great-great-grandaunt / half-great-great-granduncle / half-great-great-grandniece / half-great-great-grandnephew1.5625% (2−6)
6great-great-grandaunt / great-great-granduncle / great-great-grandniece / great-great-grandnephew3.125% (2⋅2−6)
7first cousin thrice removed1.5625% (2⋅2−7)
8second cousin twice removed0.78125% (2⋅2−8)
9third cousin once removed0.390625% (2⋅2−9)
10fourth cousin0.1953125% (2⋅2−10) [12]

Most incest laws concern the relationships where r = 25% or higher, although many ignore the rare case of double first cousins. Some jurisdictions also prohibit sexual relations or marriage between cousins of various degree, or individuals related only through adoption or affinity. Whether there is any likelihood of conception is generally considered irrelevant.

Kinship coefficient

The kinship coefficient is a simple measure of relatedness, defined as the probability that a pair of randomly sampled homologous alleles are identical by descent. [13] More simply, it is the probability that an allele selected randomly from an individual, i, and an allele selected at the same autosomal locus from another individual, j, are identical and from the same ancestor.

RelationshipKinship
coefficient
Individual-self1/2
full sister / full brother1/4
mother / father / daughter / son1/4
grandmother / grandfather / granddaughter / grandson1/8
aunt / uncle / niece / nephew1/8
first cousin1/16
half-sister / half-brother1/8
Several of the most common family relationships and their corresponding kinship coefficient.

The coefficient of relatedness is equal to twice the kinship coefficient. [14]

Calculation

The kinship coefficient between two individuals, i and j, is represented as Φij. The kinship coefficient between a non-inbred individual and itself, Φii, is equal to 1/2. This is due to the fact that humans are diploid, meaning the only way for the randomly chosen alleles to be identical by descent is if the same allele is chosen twice (probability 1/2). Similarly, the relationship between a parent and a child is found by the chance that the randomly picked allele in the child is from the parent (probability 1/2) and the probability of the allele that is picked from the parent being the same one passed to the child (probability 1/2). Since these two events are independent of each other, they are multiplied Φij = 1/2 X 1/2 = 1/4. [15] [16]

See also

Notes

  1. strictly speaking, r=1 for clones and identical twins, but since the definition of r is usually intended to estimate the suitability of two individuals for breeding, they are typically taken to be of opposite sex.
  2. For instance, one's sibling connects to one's parent, which connects to one's self (2 lines) while one's aunt/uncle connects to one's grandparent, which connects to one's parent, which connects to one's self (3 lines).
  3. A full family tree of seven generations (128 paths to ancestors of the 7th degree) is unreasonable even for members of high nobility. For example, the family tree of Queen Elizabeth II is fully known for a depth of six generations, but becomes difficult to trace in the seventh generation.

Related Research Articles

<span class="mw-page-title-main">Inbreeding</span> Reproduction by closely related organisms

Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely.

An incest taboo is any cultural rule or norm that prohibits sexual relations between certain members of the same family, mainly between individuals related by blood. All known human cultures have norms that exclude certain close relatives from those considered suitable or permissible sexual or marriage partners, making such relationships taboo. However, different norms exist among cultures as to which blood relations are permissible as sexual partners and which are not. Sexual relations between related persons which are subject to the taboo are called incestuous relationships.

Genetic drift, also known as random genetic drift, allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance.

Small populations can behave differently from larger populations. They are often the result of population bottlenecks from larger populations, leading to loss of heterozygosity and reduced genetic diversity and loss or fixation of alleles and shifts in allele frequencies. A small population is then more susceptible to demographic and genetic stochastic events, which can impact the long-term survival of the population. Therefore, small populations are often considered at risk of endangerment or extinction, and are often of conservation concern.

<span class="mw-page-title-main">Heritability</span> Estimation of effect of genetic variation on phenotypic variation of a trait

Heritability is a statistic used in the fields of breeding and genetics that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is not explained by the environment or random chance?"

Fitness is a quantitative representation of individual reproductive success. It is also equal to the average contribution to the gene pool of the next generation, made by the same individuals of the specified genotype or phenotype. Fitness can be defined either with respect to a genotype or to a phenotype in a given environment or time. The fitness of a genotype is manifested through its phenotype, which is also affected by the developmental environment. The fitness of a given phenotype can also be different in different selective environments.

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.

<span class="mw-page-title-main">Hardy–Weinberg principle</span> Principle in genetics

In population genetics, the Hardy–Weinberg principle, also known as the Hardy–Weinberg equilibrium, model, theorem, or law, states that allele and genotype frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences. These influences include genetic drift, mate choice, assortative mating, natural selection, sexual selection, mutation, gene flow, meiotic drive, genetic hitchhiking, population bottleneck, founder effect,inbreeding and outbreeding depression.

<span class="mw-page-title-main">Quantitative genetics</span> Study of the inheritance of continuously variable traits

Quantitative genetics is the study of quantitative traits, which are phenotypes that vary continuously—such as height or mass—as opposed to phenotypes and gene-products that are discretely identifiable—such as eye-colour, or the presence of a particular biochemical.

<span class="mw-page-title-main">Founder effect</span> Effect in population genetics

In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall Wright. As a result of the loss of genetic variation, the new population may be distinctively different, both genotypically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species.

<span class="mw-page-title-main">Consanguinity</span> Property of being from the same kinship as another person

Consanguinity is the characteristic of having a kinship with a relative who is descended from a common ancestor.

In population genetics, linkage disequilibrium (LD) is a measure of non-random association between segments of DNA (alleles) at different positions on the chromosome (loci) in a given population based on a comparison between the frequency at which two alleles are detected together at the same loci and the frequencies at which each allele is detected at that loci overall, whether it occurs with or without the other allele of interest. Loci are said to be in linkage disequilibrium when the frequency of being detected together is higher or lower than expected if the loci were independent and associated randomly.

In population genetics, F-statistics describe the statistically expected level of heterozygosity in a population; more specifically the expected degree of (usually) a reduction in heterozygosity when compared to Hardy–Weinberg expectation.

<span class="mw-page-title-main">Cousin</span> Descendant of an ancestors sibling

A cousin is a relative that is the child of a parent's sibling; this is more specifically referred to as a first cousin.

The effective population size (Ne) is size of an idealised population would experience the same rate of genetic drift or increase in inbreeding as in the real population. Idealised populations are based on unrealistic but convenient assumptions including random mating, simultaneous birth of each new generation, constant population size. For most quantities of interest and most real populations, Ne is smaller than the census population size N of a real population. The same population may have multiple effective population sizes for different properties of interest, including genetic drift and inbreeding.

Malecot's coancestry coefficient, , refers to an indirect measure of genetic similarity of two individuals which was initially devised by the French mathematician Gustave Malécot.

The coefficient of inbreeding (COI) is a number measuring how inbred an individual is. Specifically, it is the probability that two alleles at any locus in an individual are identical by descent from a common ancestor of the two parents. A higher COI will make the traits of the offspring more predictable, but also increases the risk of health issues. In dog breeding, it is recommended to keep the COI less than 5%; however, in some breeds this may not be possible without outcrossing.

In population genetics, fixation is the change in a gene pool from a situation where there exists at least two variants of a particular gene (allele) in a given population to a situation where only one of the alleles remains. That is, the allele becomes fixed. In the absence of mutation or heterozygote advantage, any allele must eventually either be lost completely from the population, or fixed, i.e. permanently established at 100% frequency in the population. Whether a gene will ultimately be lost or fixed is dependent on selection coefficients and chance fluctuations in allelic proportions. Fixation can refer to a gene in general or particular nucleotide position in the DNA chain (locus).

<span class="mw-page-title-main">Isolation by distance</span>

Isolation by distance (IBD) is a term used to refer to the accrual of local genetic variation under geographically limited dispersal. The IBD model is useful for determining the distribution of gene frequencies over a geographic region. Both dispersal variance and migration probabilities are variables in this model and both contribute to local genetic differentiation. Isolation by distance is usually the simplest model for the cause of genetic isolation between populations. Evolutionary biologists and population geneticists have been exploring varying theories and models for explaining population structure. Yoichi Ishida compares two important theories of isolation by distance and clarifies the relationship between the two. According to Ishida, Sewall Wright's isolation by distance theory is termed ecological isolation by distance while Gustave Malécot's theory is called genetic isolation by distance. Isolation by distance is distantly related to speciation. Multiple types of isolating barriers, namely prezygotic isolating barriers, including isolation by distance, are considered the key factor in keeping populations apart, limiting gene flow.

Genetic purging is the increased pressure of natural selection against deleterious alleles prompted by inbreeding.

References

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  9. "29 CFR § 1635.3 - Definitions specific to GINA".
  10. By replacement in the definition of the notion of "generation" by "meiosis". Since identical twins are not separated by meiosis, there are no "generations" between them, hence n=0 and r=1. See:Lancaster, F. M. (October 2005). "Calculation of the Coefficient of Relationship". Genetic and Quantitative Aspects of Genealogy. Archived from the original on 2007-06-29.
  11. "Kin Selection". Benjamin/Cummings. Retrieved 2007-11-25.
  12. This degree of relationship is usually indistinguishable from the relationship to a random individual within the same population (tribe, country, ethnic group).
  13. Lange, Kenneth (2003). Mathematical and statistical methods for genetic analysis. Springer. p. 81. ISBN   978-0-387-21750-5.
  14. Wright, Sewall (1921). "Systems of Mating" (PDF). Genetics. 6 (2): 111–178. doi:10.1093/genetics/6.2.111. PMC   1200510 . PMID   17245958.
  15. Lange, Kenneth (2003). Mathematical and statistical methods for genetic analysis. Springer. pp. 81–83.
  16. Jacquard, Albert (1974). The genetic structure of populations. Springer-Verlag. ISBN   978-3-642-88415-3.

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