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X 染色体标记在亲缘关系检测中的应用:IBD 方法的推广,确定了其贡献至关重要的情况。

X-chromosome markers in kinship testing: a generalisation of the IBD approach identifying situations where their contribution is crucial.

机构信息

IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.

出版信息

Forensic Sci Int Genet. 2011 Jan;5(1):27-32. doi: 10.1016/j.fsigen.2010.01.011. Epub 2010 Feb 18.

Abstract

The standard practice of forensic kinship evaluation uses unlinked autosomal markers. However, X-chromosome markers have recently gained recognition as a powerful tool to complement the information provided by autosomes, particularly in complex cases. In this paper, the X-chromosome mode of transmission is addressed in the theoretical identity-by-descent framework. Formulas for the joint genotypic probabilities considering various pedigrees relating two inbred and/or non-inbred individuals are derived. Finally, the importance of X-chromosome markers is highlighted by the fact that, in addition to complementing the autosomal information, X-chromosome transmission allows differential weighting of certain hypotheses regarding pedigrees belonging to the same autosomal class, i.e., pedigrees that are indistinguishable by the use of unlinked autosomal markers. Illustrative examples of common kinship testing are shown.

摘要

法医学亲缘关系评估的标准实践使用非连锁常染色体标记。然而,X 染色体标记最近已被公认为是补充常染色体提供的信息的有力工具,尤其是在复杂情况下。本文在理论的亲缘关系一致框架中讨论了 X 染色体的传递模式。推导了考虑涉及两个同系和/或非同系个体的各种家系的联合基因型概率的公式。最后,X 染色体标记的重要性在于,除了补充常染色体信息外,X 染色体的传递还允许对属于同一常染色体类别的家系的某些假设进行差异化加权,即使用非连锁常染色体标记无法区分的家系。展示了常见亲缘关系测试的示例。

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