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具有相同亲缘系数的家系集合的一般推导。

General derivation of the sets of pedigrees with the same kinship coefficients.

作者信息

Pinto Nádia, Silva Pedro V, Amorim António

机构信息

Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal. npinto @ ipatimup.pt

出版信息

Hum Hered. 2010;70(3):194-204. doi: 10.1159/000316390. Epub 2010 Aug 19.

Abstract

Quantification of kinships between two individuals using unlinked autosomal markers rests upon the identity-by-descent (IBD) probabilities among their four alleles at a locus because they determine the algebraic expressions of the joint genotypic probabilities. Nevertheless, some pedigrees share the same IBD probabilities and are therefore indistinguishable using those markers. Examples of these pedigrees were previously described, such as the case of half-siblings, grandparent-grandchild and avuncular, but a general analysis has not been attempted. The aim of this study is to present a systematic and mathematically supported framework where considering unlinked autosomal markers complete sets of indistinguishable pedigrees linking two non-inbred individuals are generally derived. In our work, complete sets of pedigrees with the same IBD partitions are formally established and mathematically treated, considering kinships linking any pair of non-inbred individuals, whether they are related just maternally or paternally, or both. Moreover, general expressions for IBD partitions, and consequently for joint genotypic probabilities, are derived considering a simple counting rule based on two 'atom' pedigrees: parent-child and full-siblings. Besides the theoretical formalization of the problem, the developed framework has potential applications in forensics as well as in breeding strategies design and in conservation studies.

摘要

使用不连锁常染色体标记对两个个体之间的亲缘关系进行量化,取决于一个基因座上其四个等位基因之间的同源相同(IBD)概率,因为它们决定了联合基因型概率的代数表达式。然而,一些谱系具有相同的IBD概率,因此使用这些标记无法区分。这些谱系的例子之前已经描述过,比如半同胞、祖孙和叔侄的情况,但尚未尝试进行全面分析。本研究的目的是提出一个系统的、有数学支持的框架,在此框架下,考虑不连锁常染色体标记,通常可以推导出连接两个非近亲个体的无法区分的谱系完整集合。在我们的工作中,正式建立并对具有相同IBD划分的谱系完整集合进行数学处理,考虑连接任何一对非近亲个体的亲缘关系,无论他们是仅通过母系或父系相关,还是两者皆有。此外,考虑基于两个“原子”谱系(亲子和全同胞)的简单计数规则,推导出IBD划分以及联合基因型概率的一般表达式。除了对该问题进行理论形式化之外,所开发的框架在法医学以及育种策略设计和保护研究中都有潜在应用。

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