WordNet

having the same evolutionary origin but not necessarily the same function; "the wing of a bat and the arm of a man are homologous"
corresponding or similar in position or structure or function or characteristics; especially derived from an organism of the same species; "a homologous tissue graft"
having the same ancestral language; "cognate languages"
a word is cognate with another if both derive from the same word in an ancestral language (同)cognate word

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血族の,血縁の,血を分けた
(位置・性質・構造などが)一致する,相応する;(生物の器官が)相同の
(言語が)同族語の,同語源の / 同族の,同じ祖先の / 同性質の,同種の,同系の / 同族語,同族言語 / 同系の人(物),親族

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/23 05:57:49」(JST)

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Consanguinity of the kings of France as shown in Arbor genealogiae regum Francorum (Bernard Gui, early 14th century).

Consanguinity ("blood relation", from the Latin consanguinitas) is the property of being from the same kinship as another person. In that aspect, consanguinity is the quality of being descended from the same ancestor as another person. The laws of many jurisdictions set out degrees of consanguinity in relation to prohibited sexual relations and marriage parties or whether a given person inherits property when a deceased person has not left a will. Rules of Consanguinity are also used to determine heirs of an estate according to statutes that govern intestate succession, which vary from jurisdiction to jurisdiction.

The degree of relative consanguinity can be illustrated with a consanguinity table, in which each level of lineal consanguinity (i.e., generation or meiosis) appears as a row, and individuals with a collaterally consanguineous relationship share the same row.^[1] The Knot System is a numerical notation that defines consanguinity.^[2]

Legal definitions

Modern secular law

Issues of consanguinity arise in several aspects of the law. It is directly relevant in determining whether a couple can marry. These are linked to a jurisdiction's definition of incest, so that couples in an incestuous relationship will not be permitted to marry. Some United States jurisdictions forbid first-cousins to marry, while others limit the prohibition to any direct ancestors or descendants, as well as siblings, half-siblings, aunts and uncles. However, marriage with aunts and uncles (avunculate marriage) is legal in Argentina, Australia, Austria, Brazil, France, Malaysia, and Russia, among other places in the world.

Several volumes of Smith's Laws, enacted from 1700 through 1829, contain certain public and private laws of the Province and Commonwealth of Pennsylvania. Several laws with a prescribed punishment against adultery, bigamy, incest and fornication and all combinations of those crimes were enacted in 1705.^[3]

The number in each box indicates the degree of relationship

Consanguinity is also relevant in issues of inheritance. In regard to the law of intestate succession (when a person dies without a will), under the Uniform Probate Code of the United States section 2-103, after a surviving spouse receives his or her share, the descendants (depending on the circumstances this may include children, grandchildren, or great grandchildren, either biological or adopted) receive the remainder of the intestate estate. If there are no children, the decedent's parent(s) receive the remainder of the estate. If there are neither descendants nor parents, the decedent's estate is distributed to descendants of the decedent's parents (again, depending on the circumstances, brothers and sisters, nieces and nephews, grand nieces and nephews and great grand nieces and nephews). If there are no descendants, parents, or descendants of parents, then the deceased's property passes to the decedent's grandparents, or if no grandparents, then the descendants of the grandparents of the decedent (uncles and aunts, first cousins, or first cousins once, twice, or thrice removed, second cousins, third cousins etc.).

Also, some jurisdictions prohibit individuals from serving on a jury in which they have a certain degree of consanguinity with the defendant.^[4]

Adoption may or may not be considered at law to create such a bond; in most Western societies, adoptive relationships are considered blood relationships for these purposes, but in others, including both Japan and ancient Rome, it was common for a couple with only daughters to adopt a son-in-law, making the marriage one between adoptive siblings.^{[citation needed]}

Religious and traditional law

Under Roman civil law, which early canon law of the Catholic Church followed, couples were forbidden to marry if they were within four degrees of consanguinity.^[5] In the ninth century the church raised the number of prohibited degrees to seven and changed the method by which they were calculated.^[6] Eventually the nobility became too interrelated to marry as the pool of non-related prospective spouses became smaller. It was either defy the church's position or look elsewhere for eligible marriage candidates.^[7] In 1215 the Fourth Lateran Council made what they believed was a necessary change to canon law reducing the number of prohibited degrees of consanguinity from seven back to four.^[8]^[9] The method of calculating prohibited degrees was changed also.^[10] Instead of the former practice of counting up to the common ancestor then down to the proposed spouse, the new law computed consanguinity by counting back to the common ancestor.^[10] In the Roman Catholic Church, unknowingly marrying a closely consanguineous blood relative was grounds for an annulment, but during the eleventh and twelfth centuries dispensations were granted with increasing frequency due to the thousands of persons encompassed in the prohibition at seven degrees and the hardships this posed for finding potential spouses.^[11] After 1215 the general rule was that while fourth cousins could marry without dispensation, generally the need for dispensations was greatly reduced.^[11] In fourteenth century England, for example, papal dispensations for annulments due to consanguinity (and affinity) were relatively few.^[12]

The connotations of degree of consanguinity varies by context (e.g., Canon law, Roman law, etc.). Most cultures define a degree of consanguinity within which sexual interrelationships are regarded as incestuous (the "prohibited degree of kinship").

Among the Christian Habesha highlanders of Ethiopia and Eritrea (the predominantly orthodox Christian Amhara and Tigray-Tigrinya), it is a tradition to be able to recount one's paternal ancestors at least seven generations away starting from early childhood, because "those with a common patrilineal ancestor less than seven generations away are considered 'brother and sister' and may not marry." The rule is less strict on the mother's side, where the limit is about four generations back, but still determined patrilinearly. This rule does not apply to Muslims or other ethnic groups.^[13]

Ayurveda clearly states that marriage within the Gotra is a consanguineous marriage which can lead to many gestational and genetic problems in the fetus. So it has become a common practice in the Hindu households during pre-marriage discussions to ask the couples' Gotra. Couples of the same Gotra are advised not to marry. The advisers of this system say that this practice definitely helps in reducing the gestational problems and ensures a healthy progeny.

Genetic definitions

A simplistic depiction of genetic relatedness after n generations as a 2^–n progression.

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 percentage of consanguinity between any two individuals decreases fourfold as the most recent common ancestor recedes one generation.^[14] Consanguinity, as commonly defined, does not depend on the amount of shared DNA within two people's genome. It rather counts the number of meioses separating two individuals. Because of the effects of pedigree collapse, this does not directly translate into the amount of shared genetic substance.

It is common to distinguish first-degree cousins, second-degree cousins, and often also third-degree cousins. Since comparatively few people can trace their full family tree for more than four generations, the identity of fourth-degree cousins often cannot be established. Also, at a genetic level, half-fourth cousins typically do not exhibit greater genetic similarity with one another than with any other individual from the same population.^[15]

Double first cousins are descended from two pairs of siblings, and have the same genetic similarity as half-siblings.

Conventionally, genetic consanguinity is expressed as defined by Wright^[16] with the coefficient of relationship r, where r is defined as the fraction of homozygous due to the consanguinity under discussion. Thus, a parent and child pair has a value of r=0.5, siblings have a value of r=0.5, a parent's sibling has r=0.25, and first cousins have r=0.125.

As a working definition, unions contracted between persons biologically related as second cousins or closer (r ≥ 0.03125) are categorized as consanguineous. This arbitrary limit has been chosen because the genetic influence in marriages between couples related to a lesser degree would usually be expected to differ only slightly from that observed in the general population.

Globally, the most common form of consanguineous union contracted is between first cousins,^{[citation needed]} in which the spouses share 1/8 of their genes inherited from a common ancestor, and so their progeny are homozygous (or more correctly autozygous) at 1/16 of all loci (r = 0.0625). Due to variation in geographical and ethnic background and the loci chosen to genotype there is some 2.4% variation expected. In practice the technical factors involved are the design of the SNP genotyping platform was used (e.g. which SNP array or sequencing method) and which software cut-offs were applied.^[17]

Rates of occurrence

Historically, some European nobles cited a close degree of consanguinity when they required convenient grounds for divorce, especially in contexts where religious doctrine forbade the voluntary dissolution of an unhappy or childless marriage.^[18] Conversely, the consanguinity law of succession requires the next monarch to be of the same blood of the previous one; allowing, for example, illegitimate children to inherit.^{[citation needed]}

It is estimated that 55% of marriages between Pakistani Muslim immigrants in the United Kingdom are between first cousins,^[19] where "preferential patrilateral parallel cousin marriage" (where a boy marries the daughter of his father's brother) is often favored.

Among modern Arabs the practice of marrying of relatives is a common feature. In the Arab world today between 40% and 50% of all marriages are consanguineous or between close family members, though these figures may vary among Arab nations.^[20]^[21] Studies have shown that 67% of Saudi marriages are between close relatives as are 54% of all marriages in Kuwait, whereas 29% of all marriages in Egypt and 18% of all Lebanese were between blood relatives.^[22]^[23]

Genetic disorders

The phenomenon of inbreeding, or endogamy, increases the level of homozygotes for autosomal genetic disorders and generally leads to a decreased biological fitness of a population known as inbreeding depression, a major objective in clinical studies.^[24] The offspring of consanguineous relationships are at greater risk of certain genetic disorders. Autosomal recessive disorders occur in individuals who are homozygous for a particular recessive gene mutation.^[25] This means that they carry two copies (alleles) of the same gene.^[25] Except in certain rare circumstances (new mutations or uniparental disomy) both parents of an individual with such a disorder will be carriers of the gene.^[25] Such carriers are not affected and will not display any signs that they are carriers, and so may be unaware that they carry the mutated gene. As relatives share a proportion of their genes, it is much more likely that related parents will be carriers of an autosomal recessive gene, and therefore their children are at a higher risk of an autosomal recessive disorder.^[26] The extent to which the risk increases depends on the degree of genetic relationship between the parents; so the risk is greater in mating relationships where the parents are close relatives, but for relationships between more distant relatives, such as second cousins, the risk is lower (although still greater than the general population).^[27] A study based on cognitive behaviors among children has revealed the cognitive impairments, more common among the subjects having greater value of inbreeding coefficients.^[28]

The low genetic heterozygosity associated with increased consanguinity in a population (identified by microsatellite markers) increases its susceptibility to infectious pathogens such as tuberculosis and hepatitis.^[29]

A notable historical example of the detrimental effects of consanguinous marriages is the now-extinct House of Habsburg.

References

^ See, e.g., table of consanguinity
^ Højrup, Knud, "The Knot System: A Numeric Notation of Relationship", National Genealogical Society Quarterly, Volume 84, Number 2, page 115, June 1996, (ISSN 0027-934X)
^ "The table of degrees of consanguinity and affinity" (PDF). Smith's Laws. 1705. Retrieved July 6, 2009.
^ "2313.42 Causes for challenge of persons called as jurors.". Ohio Laws and Rules - Ohio Revised Code. LAWriter. June 30, 2009. Retrieved July 7, 2009.
^ Constance Bouchard, Those of My Blood: Creating Noble Families in Medieval Francia (Philadelphia: University of Pennsylvania Press, 2001), p. 40
^ Constance B. Bouchard, 'Consanguinity and Noble Marriages in the Tenth and Eleventh Centuries', Speculum, Vol. 56, No. 2 (Apr., 1981), pp. 269-70
^ Constance B. Bouchard, 'Consanguinity and Noble Marriages in the Tenth and Eleventh Centuries', Speculum, Vol. 56, No. 2 (Apr., 1981), pp. 270, 271
^ http://www.ewtn.com/library/COUNCILS/LATERAN4.HTM#50 4th Lateran Council, Canon 50
^ John W. Baldwin, The Language of Sex: Five Voices from Northern France around 1200 (Chicago: University of Chicago Press, 1994), p. 78
^ ^a ^b Constance B. Bouchard, 'Consanguinity and Noble Marriages in the Tenth and Eleventh Centuries', Speculum, Vol. 56, No. 2 (Apr., 1981), p. 270
^ ^a ^b James A. Brundage, Law, Sex, and Christian Society in Medieval Europe (Chicago: University of Chicago Press, 1995), p. 356
^ R. H. Helmholz, Marriage Litigation in Medieval England (New York: Cambridge University Press, 2007), p. 86
^ Wolbert Smidt, "Genealogy" in Siegbert Uhlig, ed., Encyclopaedia Aethiopica: D-Ha, (Wiesbaden: Harrassowitz Verlag, 2005), p. 743.
^ Wirth, Eberhard Passarge. Color pl. by Jürgen (2007). Color atlas of genetics (3. ed., rev. and updated ed.). Stuttgart: Thieme. ISBN 9783131003638.
^ Ask a Geneticist - Understanding Genetics: Human Health and the Genome - (by Dr. Erin Cline Davis, 23andMe Edited by Dr. DB Starr, Stanford University (October 10, 2008)
^ Wright, Sewall (1922). "Coefficients of inbreeding and relationship". American Naturalist 56 (645): 330–338. doi:10.1086/279872.
^ Rehder et al., Documenting suspected consanguinity guidelines, ACMG, Genet Med 2013:15(2):150–152
^ James A. Brundage, Law, Sex, and Christian Society in Medieval Europe (Chicago: University of Chicago Press, 1995), p. 193
^ "Marriage between cousins increases risks to children". medicinechest.co.uk.
^ Centre for Arabic Genomic Research
^ Scientific study on the consequences of inbreeding in the Arab world
^ The incidence of consanguinity was 54.3% among Kuwaiti natives and higher among Bedouins.
^ Source contains figures for Saudi-Arabia, Lebanon and Egypt.
^ Fareed M, Afzal M. (2014) Evidence of inbreeding depression on height, weight, and body mass index: A population-based child cohort study. Am J Hum Biol. 26:784–795. doi:10.1002/ajhb.22599 PMID 25130378
^ ^a ^b ^c William J Marshall, Ph. D.; S K Bangert, Clinical biochemistry : metabolic and clinical aspects (Edinburgh; New York: Churchill Livingstone/Elsevier, 2008), p. 920
^ Benjamin Pierce, Genetics: A Conceptual Approach (New York: W.H. Freeman, 2012), p. 138
^ Kingston H M, "ABC of Clinical Genetics", 3rd Edition (London: BMJ Books, 2002), Page 7, ISBN 0-7279-1627-0
^ Fareed M, Afzal M. (2014) Estimating the inbreeding depression on cognitive behavior: A population based study of child cohort. PLoS ONE. 9(10):e109585. doi:10.1371/journal.pone.0109585 PMID 25313490
^ Lyons EJ, Frodsham AJ, Zhang L, Hill AV, Amos W. (2009). Consanguinity and susceptibility to infectious diseases in humans. Biol Lett. 23;5(4):574-6. doi:10.1098/rsbl.2009.0133 PMID 19324620

External links

Kalmes, Robert and Jean-Loup Huret. "Consanguinity." - Includes detailed information on the application of the coefficient of consanguinity
Burtsell, Richard L. "Consanguinity (in Canon Law)." The Catholic Encyclopedia.
Consanguinity from GeneWeb
Canon Law and Consanguinity
Rehder C.W. et al. [1]

UpToDate Contents

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English Journal

C19orf12 mutation leads to a pallido-pyramidal syndrome.

Kruer MC1, Salih MA2, Mooney C3, Alzahrani J4, Elmalik SA5, Kabiraj MM6, Khan AO7, Paudel R8, Houlden H8, Azzedine H9, Alkuraya F10.Author information 1Sanford Children's Health Research Center, Sioux Falls, SD, USA; Division of Pediatric Neurology, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA. Electronic address: michael.kruer@sanfordhealth.org.2Division of Pediatric Neurology, College of Medicine, King Saud University,Riyadh, Saudi Arabia.3School of Medicine and Medical Science, University College Dublin, Dublin, Ireland, UK.4Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.5Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.6Department of Neurosciences, Armed Forces Hospital, Riyadh, Saudi Arabia.7Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.8Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UK.9Department of Medical Genetics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.10Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.AbstractPallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.
Gene.Gene.2014 Mar 10;537(2):352-6. doi: 10.1016/j.gene.2013.11.039. Epub 2013 Dec 17.
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 ar
PMID 24361204

A family with factor-XI deficiency due to a compound heterozygosis between Gln 47 Pro (new mutation) in exon 3 and Leu 619 Pro in exon 15.

Girolami A, Sambado L, Peroni E, Santarossa L, Lombardi AM.Author information aDepartment of Medicine, University of Padua Medical School, Padua bBlood Transfusion Center, Pordenone City Hospital, Pordenone, Italy.AbstractA new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency. FXI activity and antigen in the proposita were 2% activity and less than 5% of normal, respectively. The parents are not consanguineous and are asymptomatic. The father is heterozygote for the new mutation whereas the mother is heterozygote for the known mutation. Other family members are heterozygotes for either one of the two mutations. The new mutation is not a polymorphism as it was not found in the population of the area. The geographical area, north-east of Italy, of the present family is the same area where a cluster of another new mutation (Ile 436 Lys) was recently reported. No relation was found between the present family and those with the previous mutation.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2014 Mar;25(2):191-5. doi: 10.1097/MBC.0b013e3283641935.
A new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency. FXI activity and antigen in the proposita were 2% activity and less than 5% of normal, respectively. The parents are
PMID 24121361

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

Nilsson MI1, Kroos MA2, Reuser AJ3, Hatcher E1, Akhtar M1, McCready ME4, Tarnopolsky MA5.Author information 1Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5.2Department of Clinical Genetics and Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands.3Department of Clinical Genetics and Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Disease, Erasmus MC University Medical Center, Rotterdam, Netherlands.4Department of Pathology and Molecular Medicine, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5.5Department of Pediatrics, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario, Canada L8 3Z5. Electronic address: tarnopol@mcmaster.ca.AbstractPompe disease is a clinically and genetically heterogeneous autosomal recessive disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. We report on two affected members of a non-consanguineous Caucasian family, including a classical infantile-onset patient with severe cardiomyopathy (IO) and his paternal grandmother with the adult-onset (AO) form. Two compound heterozygous sequence variants of the GAA gene were identified in each patient by mutation analyses (IO=c.1211A>G and c.1798C>T; AO=c.1211A>G and c.692+5G>T). For this study, the biochemical phenotype resulting from the missense mutation c.1211A>G in exon 8, which converts a highly conserved aspartate to glycine (p.Asp404Gly), was of specific interest because it had not been reported previously. Western blotting revealed a robust expression of all GAA isoforms in quadriceps muscle of both patients (fully CRIM positive), while enzymatic activity was 3.6% (IO) and 6.6% (AO) of normal controls. To further validate these findings, the c.1211A>G sequence variant was introduced in wild type GAA cDNA and over-expressed in HEK293T cells. Site-directed mutagenesis analyses confirmed that the mutation does not affect processing or expression of GAA protein, but rather impairs enzyme function. Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. The third mutation (c.692+5G>T, in intron 3) was predicted to affect normal splicing of the GAA mRNA, and qPCR indeed verified a 4-fold lower mRNA expression in AO. It is concluded that the novel sequence variant c.1211A>G results in full CRIM but significantly lower GAA activity, which in combination with c.1798C>T leads to infantile-onset Pompe disease. We surmise that the difference in disease severity between the two family members in this study is due to a milder effect of the intronic mutation c.692+5G>T (vs. c.1798C>T) on phenotype, partially preserving GAA activity and delaying onset in the proband (paternal grandmother).
Gene.Gene.2014 Mar 1;537(1):41-5. doi: 10.1016/j.gene.2013.12.033. Epub 2013 Dec 30.
Pompe disease is a clinically and genetically heterogeneous autosomal recessive disorder caused by lysosomal acid α-glucosidase (GAA) deficiency. We report on two affected members of a non-consanguineous Caucasian family, including a classical infantile-onset patient with severe cardiomyopathy (IO)
PMID 24384324