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In genealogy, pedigree collapse describes how reproduction between two individuals who share an ancestor causes the number of distinct ancestors in the family tree of their offspring to be smaller than it could otherwise be. Robert C. Gunderson coined the term; synonyms include implex and the German Ahnenschwund ("loss of ancestors"). [1]
Without pedigree collapse, a person's ancestor tree is a binary tree, formed by the person, the parents (2), the grandparents (4), great-grandparents (8), and so on. However, the number of individuals in such a tree grows exponentially and will eventually become impossibly high. For example, a single individual alive today would, over 30 generations going back to the High Middle Ages, have 230 or roughly 1 billion ancestors, more than the total world population at the time. [2] [ pages needed ]
This paradox is explained by shared ancestors. Instead of consisting of all different individuals, a tree may have multiple places occupied by a single individual. This typically happens when the parents of an ancestor are related to each other (sometimes unbeknownst to themselves). [3] [4] For example, the offspring of two first cousins has at most only six great-grandparents instead of the usual eight. This reduction in the number of ancestors is referred to as pedigree collapse. It collapses the ancestor tree into a directed acyclic graph.
In some cultures, cousins and other relations were permitted, encouraged, or required to marry. This may have been to keep kin bonds, wealth and property within a family (endogamy) or simply because there was a limited number of potential marriage partners available. Among royalty, the frequent requirement to marry only other royals resulted in a reduced gene pool in which most individuals were the result of extensive pedigree collapse. Alfonso XII of Spain, for example, had only four great-grandparents instead of the usual eight. Furthermore, two of these great-grandparents, Charles IV of Spain and Maria Luisa of Parma, who themselves were first cousins, were parents of another great-grandparent, Maria Isabella of Spain. Essentially, Alfonso's parents were double first cousins, i.e. his two grandfathers were brothers and his two grandmothers were sisters, meaning there were only two sets of great-grandparents rather than four. In addition, each grandfather had married one of their sister's daughters, i.e. they had each married their sororal niece.
More generally, in many cultures intermarriage may frequently occur within a small village, limiting the available gene pool.
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This section relies largely or entirely upon a single source .(October 2017) |
The House of Habsburg gives a well-documented example of pedigree collapse. In the case of Charles II, the last Habsburg King of Spain, there were three uncle-niece marriages among the seven unions of his immediate ancestry (i.e. parents, grandparents and great-grandparents). His father and two of his great-grandfathers married their nieces. His paternal grandparents were first cousins once removed, but they comprised two of the seven marriages because they were also parents to his maternal grandmother. His maternal grandparents' marriage and the final marriage of great-grandparents was between first cousins.
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The maximum pedigree collapse of 50% within a single generation is caused by procreation between full siblings; such children have only two different grandparents instead of the usual four. If two half-siblings procreate, their children have three grandparents instead of four (25%).
If a child and parent were to procreate, their offspring would have four grandparents; so, procreation between parents and children would result in less pedigree collapse than procreation between full siblings – although one of the grandparents would also be a parent and therefore introduce no additional genes.
If a person procreates with a full sibling of one of their parents (as with the uncle-niece marriages mentioned above), the offspring have four different persons as grandparents, and eight great-grandparents, but again some of these contribute no additional genes (see Inbreeding).
Small, isolated populations such as those of remote islands represent extreme examples of pedigree collapse, but the common historical tendency to marry those within walking distance, due to the relative immobility of the population before modern transport, meant that most marriage partners were at least distantly related. Even in America around the 19th century, the tendency of immigrants to marry among their ethnic, language or cultural group produced many cousin marriages.
If one considers as a function of time t the number of a given individual's ancestors who were alive at time t, it is likely that for most individuals this function has a maximum at around 1200 AD. It was suggested in 1985 that everyone on Earth is at most 50th cousin to everyone else, based on a relatively random mating model. [5] Simulations published in 2004 which take into account the geographical separations and less random patterns of mating in real life suggest that some populations are separated by up to a few thousand years, with a most recent common ancestor perhaps 76 generations back, though some highly remote populations may have been isolated for somewhat longer. [6] [7]
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: CS1 maint: multiple names: authors list (link)Incest is human sexual activity between family members or close relatives. This typically includes sexual activity between people in consanguinity, and sometimes those related by affinity, adoption, or lineage. It is strictly forbidden and considered immoral in most societies, and can lead to an increased risk of genetic disorders in children.
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 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.
Exogamy is the social norm of mating or marrying outside one's social group. The group defines the scope and extent of exogamy, and the rules and enforcement mechanisms that ensure its continuity. One form of exogamy is dual exogamy, in which two groups continually intermarry with each other.
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.
Endogamy is the cultural practice of mating within a specific social group, religious denomination, caste, or ethnic group, rejecting any from outside of the group or belief structure as unsuitable for marriage or other close personal relationships. Its opposite, exogamy, describes the social norm of marriage outside of the group.
Consanguinity is the characteristic of having a kinship with a relative who is descended from a common ancestor.
An ancestor, also known as a forefather, fore-elder, or a forebear, is a parent or (recursively) the parent of an antecedent. Ancestor is "any person from whom one is descended. In law, the person from whom an estate has been inherited."
The coefficient of relationship is a measure of the degree of consanguinity 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.
In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA), of a set of organisms is the most recent individual from which all the organisms of the set are descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms.
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.
A cousin is a relative that is the child of a parent's sibling, this is more specifically referred to as a first cousin.
A person's next of kin (NOK) may be that person's spouse, adopted family member or closest living blood relative. Some countries, such as the United States, have a legal definition of "next of kin". In other countries, such as the United Kingdom, "next of kin" may have no legal definition and may not necessarily refer to blood relatives at all.
In genetic genealogy, the identical ancestors point (IAP), or all common ancestors (ACA) point, or genetic isopoint, is the most recent point in a given population's past such that each individual alive at that point either has no living descendants, or is the ancestor of every individual alive in the present. This point lies further in the past than the population's most recent common ancestor (MRCA).
Inbreeding depression is the reduced biological fitness that has the potential to result from inbreeding. Biological fitness refers to an organism's ability to survive and perpetuate its genetic material. Inbreeding depression is often the result of a population bottleneck. In general, the higher the genetic variation or gene pool within a breeding population, the less likely it is to suffer from inbreeding depression, though inbreeding and outbreeding depression can simultaneously occur.
A cousin marriage is a marriage where the spouses are cousins. The practice was common in earlier times and continues to be common in some societies today, though in some jurisdictions such marriages are prohibited. Worldwide, more than 10% of marriages are between first or second cousins. Cousin marriage is an important topic in anthropology and alliance theory.
Laws regarding incest vary considerably between jurisdictions, and depend on the type of sexual activity and the nature of the family relationship of the parties involved, as well as the age and sex of the parties. Besides legal prohibitions, at least some forms of incest are also socially taboo or frowned upon in most cultures around the world.
Consanguine marriage is marriage between individuals who are closely related. Though it may involve incest, it implies more than the sexual nature of incest. In a clinical sense, marriage between two family members who are second cousins or closer qualifies as consanguineous marriage. This is based on the gene copies their offspring may receive. Though these unions are still prevalent in some communities, as seen across the Greater Middle East region, many other populations have seen a great decline in intra-family marriages.
Quantitative trait loci mapping or QTL mapping is the process of identifying genomic regions that potentially contain genes responsible for important economic, health or environmental characters. Mapping QTLs is an important activity that plant breeders and geneticists routinely use to associate potential causal genes with phenotypes of interest. Family-based QTL mapping is a variant of QTL mapping where multiple-families are used.
Inbreeding avoidance, or the inbreeding avoidance hypothesis, is a concept in evolutionary biology that refers to the prevention of the deleterious effects of inbreeding. Animals only rarely exhibit inbreeding avoidance. The inbreeding avoidance hypothesis posits that certain mechanisms develop within a species, or within a given population of a species, as a result of assortative mating and natural and sexual selection, in order to prevent breeding among related individuals. Although inbreeding may impose certain evolutionary costs, inbreeding avoidance, which limits the number of potential mates for a given individual, can inflict opportunity costs. Therefore, a balance exists between inbreeding and inbreeding avoidance. This balance determines whether inbreeding mechanisms develop and the specific nature of such mechanisms.