Morera Bernal, Barrantes Ramiro
Escuela de Biologia e INISA, Universidad de Costa Rica, 2060 San José, Costa Rica.
Rev Biol Trop. 2004 Sep;52(3):629-44. doi: 10.15517/rbt.v1i2.15351.
In the last decade, the Costa Rican Central Valley population (CRCV), has received considerable scientific attention, attributed in part to a 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. (2) A genetic isolate, with a recent founder effect of European origin, genetically homogeneous, with a high intermarriage rate, and with a high degree of consanguinity. 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 (a) between 1860 and 1969 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 but in general it was not correlated with a values. The general tendency shows a consanguinity decrease in time, and from rural to urban communities, repeating the tendencies observed in other countries with the 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 not 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.
在过去十年中,哥斯达黎加中央山谷人口(CRCV)受到了相当多的科学关注,部分原因是其独特有趣的人口结构。出现了两种不同且相互矛盾的解释:(1)一个欧洲 - 美洲印第安人 - 非洲人混合的群体,具有一些区域遗传杂合性和中等程度的近亲结婚现象,类似于其他拉丁美洲群体。(2)一个遗传隔离群体,具有近期欧洲起源的奠基者效应,基因同质化,近亲结婚率高,且近亲程度高。自当前人口定居以来,丰富的民事和宗教文献使得广泛的家谱和姓氏研究有助于分析这两种假设。本文回顾了CRCV内近亲结婚和近亲关系的时空方面,将其作为理解人口历史的关键。1860年至1969年期间的平均近亲繁殖系数(a)显示出随时间总体下降。CRCV人口中的近亲关系并不均匀,且与可变的地理模式相关。结果表明,近亲结婚频率很高,但总体上与a值无关。总体趋势显示近亲关系随时间减少,并且从农村社区到城市社区,重复了在其他相同发展程度国家观察到的趋势,并遵循西方世界的总体趋势。世界上很少有人口区域或社区可被视为真正的遗传隔离群体。如图所示,在上个世纪,CRCV人口的近亲关系值显然与真正的遗传隔离群体不符。需要清楚了解哥斯达黎加人口的遗传结构,以解释遗传疾病的起源及其对卫生系统的影响。