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Received II Corrected VII Accepted VIII In the last decade, the Costa Rican Central Valley population CRCVhas received considerable scientific attention, attributed in part can genotype aa marry ss what is therapy research particularly interesting population structure. Two different and contradictory explanations have emerged: 1 An European-Amerindian-African admixed population, with some regional genetic heterocigosity and moderate degrees of consanguinity, similar to other Latin-American populations.
Extensive civil and religious documentation, since the settlement of the current population, allows wide genealogy and isonymy studies useful in the analysis of both hypotheses. This paper reviews temporal and spatial aspects of endogamy and consanguinity in the CRCV as a key to understand population history. The average inbreeding coefficients between and show a general decrease within time.
The consanguinity in the CRCV population is not homogeneous, and it is related to a variable geographic pattern. Results indicate that the endogamy frequencies are high can genotype aa marry ss in general it was not correlated with a? The general tendency shows a consanguinity decrease in time, can genotype aa marry ss from rural to urban communities, repeating the tendencies observed in other countries with can genotype aa marry ss same degree of development, and follows the general Western World tendency.
Few human areas or communities in the world can be considered true genetic isolates. As shown, during last century, the CRCV population has had consanguinity values that definitively do can genotype aa marry ss match those of true genetic isolates. A clear knowledge of the Costa Rican population genetic structure is needed to explain the origin of genetic diseases and its implications to the health system.
Epub Dic Key words: Consanguinity, endogamy, human genetics, population structure, Central Valley, Costa Rica. Few studies have been made on the can genotype aa marry ss history of the Costa Rican general population. Today, this majority population is in clear expansion. Therefore, valuable information about its genetic variability and origins is missing.
We are also loosing the possibility of applying such information in research and in solving genetic epidemiology and health problems Morera et al. In the last decade, this population, and particularly the Costa Rican Central Valley population CRCVhas received the attention of numerous studies on genetic diseases Santos et al. These scientific attention can be attributed, at least in part, to the unique combination of a series what is a consumer producer relationship operative-type characteristics and of a particularly interesting population structure Morera et al.
In practical work, this population has also proved useful for genetic-mapping of some genes responsible for widely distributed monogenic diseases Leon et al. At the same time, his usefulness has generated large expectations for gene mapping of complex disorders Escamilla et al. To date, important advances have been made in the mapping of various loci related to the bipolar disease BPI Freimer et al.
Two different explanations of the CRCV population structure are emerging. Curiously, they are contradictory and probably exclusive:. On the one hand, diverse ethnohistoric ThielSanabriaMeléndez, Acuña-León and Chavarría-LópezMeléndez Obando, Madrigal and Ware and genetic sources have described the CRCV population as: with a multiracial origin, product of an important admixture between ethnic groups from Europe, Africa and the American continent RobertsMorera and BarrantesMorera et al.
On the other hand, similarly to other population models, it has been postulated that the CRCV population is genetically homogeneous Uhrhammer et al. The ethnic admixture has been mentioned Escamilla et al. This second hypothesis is frequently present in recent literature McInnes et al. Both hypothesis are contradictory and therefore more research is need on the structure of the Costa Rican can genotype aa marry ss.
Fortunately, almost since the establishment of the current population, there is an extensive civil and religious documentation that includes biodemografic data. This fact allows isonymy studies and wide genealogic reconstructions see Melendez Obandovery useful in the analysis of both hypothesis. This revision analyzes the geographical-spatial aspects of endogamy and consanguinity in the Central Valley of Costa Rican as a key to understand population history.
Such findings should be useful to answer the question: Is the Can genotype aa marry ss Rican Central Valley a genetic isolate? Family and population consanguinity can can genotype aa marry ss estimated by means of the inbreeding coefficient F. This coefficient explains the probability that an individual is the carrier by inheritance of two identical alleles in a given locus because they have a common origin Crow and MangeSalzano and Bortolini Genealogy is the classical method to study consanguinity inbreeding in historic populations.
This method allows the analysis of at least three generations Cavalli-Sforza and Bodmer how long does it take to get genetic testing results pregnancy Data are obtained in civil or religious records that compulsively report inbreeding marriage besides other biodemografic variables Zumbado and Barrantes Anthropologists have also trusted the isonymy method which is based on the frequency of marriages with the same surname in a population Madrigal and Ware Furthermore, if a historic population is studied for a sufficiently long period, it is possible to establish if the endogamy and consanguinity levels are stable during the study period or if they change in time Madrigal and Ware Various consanguinity papers on the Costa Rican Central Region populations have been published.
In turn, Zumbado and Barrantes estimated consanguinity in the central provinces of Costa Rica CRCV and its evolution during the last years, as will be detailed further on. In general, the data came from the marriage files, dispense books and marriages books in the Metropolitan Curia Archive, and from the Catholic Church parish archives, as described in detail in the original papers BarrantesZumbado and Barrantes can genotype aa marry ss, Madrigal and Ware The three studies included the period from to in an uneven way and therefore only the period from to is methodologically comparable.
A Costa Rican Central Valley how to add affiliate links to my website distribution map was traced with the interpolation of the inbreeding coefficient estimated in the network nodes for a total of points, of which 44 are real.
Following Calafell and Bertanpetit the value of each node was given by the surrounding points average according with the squared inverse of the distance between the nodes of each real sample. The result of this procedure is a continuous three-dimensional surface two are geographical and the third is the inbreeding coefficient. It can be understood as an undulated plot or as a landscape with valleys minima frequencies and mountains maxima frequencies. It must be stated that the objective of these maps is to see the inbreeding coefficients in the geographical space.
As there are no well-established cline tendencies, a given value of an area without direct study can not be considered an expected value Calafell The inbreeding average coefficients between and in the four CRCV provinces shows a general reduction in can genotype aa marry ss. The tendency is more clear starting from the period, until the last period, when the consanguinity coefficient is relatively low Fig.
The zones of San José 1 and Heredia show the higher consanguinity values. It has been found that in CRCV most of the inbreeding unions occur between first degree and second degree cousins, explaining total value of Zumbado and Barrantes and repeating the tendencies observed in other countries Cavalli-Sforza and Bodmer In general, these results contradict the non-quantitative belief that the CRCV population has a high degree of consanguinity Freimer et al.
Although the general tendency shows a consanguinity decrease in time in the four provinces, when analyzing in detail the geographic space the inbreeding coefficients found in each parish present significant variations among them Fig. It is remarkable that the consanguinity of CRCV population is not homogeneous, the pattern that it shows is to some extent related with orography. Analyzed by parish, the marriages tend to what are the main business strategies random in the main cities of the Valley.
During the middle of the can genotype aa marry ss th century the first three towns have inbreeding values as high as those of many genetic isolates. In these specific regions consanguinity could be determined by groups of families who practice consanguineous marriages motivated by the lack of mates, as a result of high emigration towards other parts of the country, including the Central Valley Zumbado and Barrantes This was the case of the Dota region Barrantes as it will be considered further on.
Several studies have made extensive genealogical analyses in CRCV population in an can genotype aa marry ss to identify genes associated with simple and complex Mendelian diseases Leon et al. It shows all the inbreeding unions found in his ancestors between the 16 th and 20 th centuries. It is possible to detect a relationship between the consanguinity cycles and the agricultural expansive waves within the Central Valley.
This type of pedigree -without a quantitative analysis see Leon and Fournier - may be useful to understand the overestimated importance that has been attributed to consanguinity in this population. It also emphasizes one of the comparative advantages of this population in the study of genetic mapping. The proportion of husbands and wives born in the same group of a defined type, is often called "endogamy proportion" Cavalli-Sforza and Bodmer The endogamy analysis between and in the four provinces of CRCV shows that the endogamy percentage is high and can genotype aa marry ss little temporary variation, with a very slight tendency to decrease Fig.
This pattern suggests the presence of moderate emigrations and a predominance of unions between couples born in the same locality, but with different types of consanguineous union. Can genotype aa marry ss suggests the presence of few unions of close relatives for example uncle-nieceindicators of high consanguinity in a population. In conclusion, what has changed in time are the types of consanguineous unions, less frequent with time, which decreases the inbreeding coefficient Zumbado and What is database and its significance As shown in this paper, the endogamy quantitative analysis of the last century in the four provinces of CRCV corroborates this belief.
The most important genetic consequence of keeping endogamy, while simultaneously reducing can genotype aa marry ss -considering the number of generations staying in the region 20is the potential increase in carriers of some traits in heterocigotic condition. As is well known, the proportion of heterocigotic individuals is 8 to 10 times higher than the proportion of recessive homocigotes. The continuous breeding between no-consanguineous carriers, or carriers with a distant consanguinity, can rise if endogamy is maintained, increasing the risk of recessive homocigotes with hereditary illnesses or with genes that predispose the individual to complex disorders.
At the same time this characteristic represents an advantage for genetic mapping studies, because the probability of finding homocigotes with identical-by-descent alleles increases. Two parishes from the Costa Rican Central Valley have been analyzed for prolonged and continuous periods of time. Both populations have particularities that deserve reviewing. Barrantes carried out a consanguinity and population structure study in the Dota parish for a continuous period of 75 years with a sample of marriages of which Endogamy tends to increase in time in both types of union.
The marital and migration distances are short and diminish in the final periods of the study. The marital distances are smaller in consanguineous marriages. The emigration behavior is identical in both types of marriages. In this parish, the inbreeding coefficient substantially increased when analyzing only can genotype aa marry ss emigration of the inhabitants. Nevertheless, this region is considered "a rejecting area", this means that the emigration is high and the immigration is low.
Inbreeding was studied by analysis of ecclesiastical dispensations and by two isonymy methods Crow and MangePinto-Cisternas et al. As expected, the dispensation inbreeding coefficients were lower than those obtained through isonymy. However, the three can genotype aa marry ss indicate that consanguinity increased in the community during the second part of the nineteenth century. They found that a large proportion of marriages involved individuals who were members of long-standing or core families.
When new surnames appeared in the records presumably as a result of immigrationthey were introduced more frequently by males, indicating that more males than females migrated into the community. The core families did not mate preferentially among themselves but appear to have readily accepted the migrants. Indeed, the greatest preponderance of repeated-surname marriages was that expected by chance. However, non-random surname repetition is evident when marriages between non-illegitimate consorts are analyzed.
That is, the frequency of repeated-pair surname marriages is statistically significant in marriages involving brides and grooms who carried two surnames. Interestingly, significant departures from random repetition of surnames occurred during the decade in which the great cholera epidemic affected Costa Rica and during the decade following it. This departure from panmixia supports the notion that mating patterns were altered as a result of the what does given mean in math, a suggestion they made previously when they reported that inbreeding increased in these same decades Can genotype aa marry ss and Ware
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