consanguinity

/kon'sang gwin"i tee/, n.

1. relationship by descent from a common ancestor; kinship (distinguished from affinity).

2. close relationship or connection.

[1350-1400; ME consanguinite ( < AF) < L consanguinitas. See CONSANGUINEOUS, -ITY]

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▪ kinship

Introduction

       kinship characterized by the sharing of common ancestors. The word is derived from the Latin consanguineus, “of common blood,” which implied that Roman individuals were of the same father and thus shared in the right to his inheritance.

      Kin are of two basic kinds: consanguineous (sharing common ancestors) and affinal (related by marriage). In some societies other pairs of individuals also treat each other as relatives—for example, the wives of a pair of brothers, relatives by adoption, and godparents who have special kinlike relationships (fictive kin). Consanguineous kinship is a universal type; it includes those with common ancestors and excludes individuals who lack ancestors in common.

      In the modern sense, consanguinity is a genetic concept. From a strictly biological point of view, the term is inappropriate (as are the terms mixed blood and good blood), because the genetic contributions of ancestors are not passed on to their descendants as blood but through genes contained in the chromosomes located in cell nuclei. Chromosomes are composed of nucleic acids ( DNA, or deoxyribonucleic acid) and proteins. DNA is the constituent portion of the chromosome that carries genes, and it is coded in specific ways to produce and control protein synthesis, with parts of each parent's genetic message transmitted to the offspring. From a genetic perspective, consanguinity influences the probabilities of specific combinations of genetic characteristics called genotypes. Consanguinity results in the inheritance, from common ancestors of both parents, of transmissible capacities to synthesize and control nucleic acids and proteins, the essential substances of all organisms.

Genetic degrees of consanguinity

Relatedness of siblings (sibling)

      Consanguineous relatives are defined within various degrees, according to the likelihood of their sharing genetic potentialities from common ancestors. Thus, pairs of brothers and sisters (siblings) all have the same ancestors, whereas pairs of first cousins who are not otherwise related share only one-half of their ancestors. A child inherits only about one-half of the coded information from each parent; hence, a pair of brothers or sisters have about half of their chromosomal constitution in common. (The doubt about the exact fraction is due to the chance element in its transmission during meiosis, the cell division that produces sperm and egg, each possessing a haploid number of chromosomes.)

Degrees of kin

      Genetically the degree of consanguinity of siblings is the same as that between a parent and child, and both are termed consanguineous in the first degree. An aunt or uncle shares with a niece or nephew about half the chance of common inheritance of a pair of siblings; thus, aunts and uncles may be termed consanguineous kin of the second degree. Following this logic, first cousins who have one-eighth of their genes in common are referred to as consanguineous kin of the third degree.

Lineal (lineage) and collateral kin

      A great-grandparent and great-grandchild are genetically related to the same degree as a pair of first cousins. The grandparent is, however, a lineal (kinship terminology) kinsman, whereas the cousin is collateral (kinship terminology) kin. In genetics (genetics, human) the degree of consanguinity is the sole factor of significance, but in various communities social relationships also are important in discriminating between collateral and lineal types of relationship. Likewise, biological attributes such as age and birth order often influence social attitudes and behaviour. In fact, consanguineous kin of various degrees, and even nonconsanguineous kin, may be addressed by the same term and treated similarly by custom or law (the term uncle, for instance, may be applied to a granduncle or to the husband of an aunt).

Inheritance and gene expressivity

      A major application of data on consanguinity reflects the probability that two individuals of known degree of consanguinity to another individual will share the traits of that person. This probability depends on the mode of inheritance and the degree of penetrance or expressivity of the causative genes. The mode of inheritance may, for example, be dominant (dominance) or recessive (recessiveness). A pair of genes occupying the same relative position in a set of two chromosomes in the cell nucleus (these genes are called alleles) can code for two alternative traits, such as greenness and yellowness in peas. Both alleles may encode only one trait, or each may specify a different trait. When the alleles differ, both the trait that is observed and its mode of inheritance are described as dominant. Conversely, if the trait is observed only when both alleles are identical, it is recessive. A third mode of inheritance is termed sex-linked (sex chromosome). Genes for hemophilia, for example, are present in both males and females, but it is males who are much more commonly affected with the disease. The degree of penetrance is the frequency with which any trait or effect is shown in a group or population that has the gene corresponding to that trait. Expressivity is the variable degree to which a given trait manifests in an individual.

inbreeding and pedigree construction

      Measurement of inbreeding in terms of the degree of consanguinity between two parents is another significant application of data on consanguinity. The coefficient of inbreeding (F) is used to define the probability that two alleles will be identical and derived from the same forebear. The application of this principle is most easily demonstrated by example. If a brother and sister married, their offspring would have one chance in four of inheriting a pair of identical alleles from the grandparent. With each further degree of consanguinity, the likelihood is halved, so that in the child of a mating between aunt and nephew the likelihood of identical alleles would be 1 in 8, and in a child of first cousins, 1 in 16.

 In the construction of pedigrees, horizontal lines are used to connect symbols of siblings and mates and vertical lines to connect parents with their offspring, with all inbreeding represented by one or more loops, each of which involves consanguinity. The coefficient of inbreeding for an individual is the sum of that calculated for all the loops that include the individual's parents. The inbreeding coefficient of a population is calculated from the average F values of its members. High values of F are found in small populations whose members marry one another over many generations. Such groups are called isolates. Thus, the Samaritans, who have remained a small but distinctive group since the 8th century BC, are considerably inbred, and in the United States some religious groups also live in agricultural colonies as isolates (for instance, the Amish and the Hutterites). Besides these numerically small groups, strict intracommunity marriage is strongly favoured by many populations in the Middle East, Central and South Asia, and North and sub-Saharan Africa. In many of these communities, from 20 to more than 60 percent of all marriages in the current generation are intrafamilial, most commonly between first cousins.

Homozygosity (homozygote) and heterozygosity

      In genetics (genetics, human) an allele that is carried at the same position in both of a pair of chromosomes is called homozygous. An allele may be rare in the general population, but, if the parent possesses it, it is transmitted from parent to child with the same probability as any common allele. Therefore, the chance of receiving a rare allele in the chromosomes derived from both mother and father—that is, the chance of being homozygous for that allele—is greatest in the offspring of consanguineous mating. In theory, since repeated mutations are rare, homozygosity of even common alleles may be ascribed to distant consanguinity. (See homozygote.)

Mendelian (Mendel, Gregor) inheritance

      Austrian botanist, teacher, and Augustinian prelate Gregor Mendel (Mendel, Gregor)'s classic experiments with peas and much subsequent work showed that when an allele was present on both chromosomes (homozygous), the effects could be very different from those when it was inherited on only one chromosome from one parent (heterozygous). In medical genetics there are many proteins, especially enzymes, that are produced in adequate amounts if either chromosome carries the appropriate allele. Absence of the gene in both alleles produces a deficiency in the protein it determines, and rare diseases and anomalies of this kind usually are more common in the offspring of consanguineous unions. In 1902, soon after the rediscovery of Mendel's laws, the high frequency of consanguinity in the parents of individuals with inborn errors of metabolism was used as evidence of recessive (recessiveness) Mendelian inheritance in humans. One of the defects noted was albinism, a condition in which the skin is pink and the hair white, the eyes lack pigment, and subjects experience discomfort in bright sunlight. In the offspring of consanguineous unions, specific genetic effects of this nature are appreciable only in rare hereditary diseases; the rarer the occurrence of a disorder, the more frequently the parents are found to be consanguineous.

mortality

      Excess mortality and serious childhood defects have been reported in 20 to 35 percent of the offspring of consanguineous matings of the first degree, whether brother-sister, father-daughter, or mother-son. Nongenetic influences, such as young maternal age, may contribute substantially to these adverse outcomes. Mortality in the offspring of first-cousin marriages is 4 to 5 percent higher than in nonconsanguineous progeny, with 2 to 3 percent additional birth defects. In more-remote levels of inbreeding, correspondingly lower levels of death and defect occur. As rarity of causative genes is an important factor, the overall influence of inbreeding tends to be limited in Western populations, where consanguineous unions are generally uncommon. Where consanguineous marriage is preferential, genetic disease (genetic disease, human) can contribute significantly to the overall disease profile, although the unfavourable sociodemographic circumstances of many consanguineous couples is a major contributory factor.

Advantageous heterozygosity

      In heterozygous form, with no adverse influence on the individual who carries them, recessive alleles retain the potential of causing future deaths from inherited disease. In effect, the death of the infant offspring of consanguineous parents purges the gene pool and reduces the possibility that recessive disease genes will be expressed in succeeding generations. The principle of deliberate inbreeding is used with domestic animals to eliminate covert recessive alleles from the stock. However, health problems do exist even in very highly inbred “pure” lines, and some degree of allele heterozygosity would appear to be advantageous. Many species, including humans, have been established by episodes of isolation and inbreeding interspersed with outbreeding, and they apparently thrive in this way.

Historical relevance

      First-degree consanguineous marriage was practiced in a number of early societies, including the 18th and 19th Egyptian dynasties, Zoroastrian (Zoroastrianism) Iran, the Inca empire, and the Hawaiian ruling classes. By comparison, all modern human societies have some form of incest taboo. These are rules and laws that prohibit marriage or sexual relations, or both, between certain kin. These kin always include some consanguineous classes, and one theory behind the establishment of incest laws supposes folk knowledge of undesirable inbreeding effects in the offspring of close kin unions. Considerable variation exists in the levels of inbreeding proscribed within different societies, and taboos can extend to nonconsanguineous relationships. For instance, in traditional Chinese society a man may marry his mother's brother's daughter, but marriage between a male and female with the same surname is prohibited. Other theories of the origin of incest, therefore, include analysis of its effects on stability of the family as an economic and educational unit and ascribe the definition of incest in various societies to social and psychological motives.

Alan H. Bittles

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