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从莱文廷的视角看法医学遗传学:群体结构、祖源和种族。

Forensic genetics through the lens of Lewontin: population structure, ancestry and race.

机构信息

Department of Genetics and Genome Biology, University of Leicester, University Road, Leicester LE1 7RH, UK.

出版信息

Philos Trans R Soc Lond B Biol Sci. 2022 Jun 6;377(1852):20200422. doi: 10.1098/rstb.2020.0422. Epub 2022 Apr 18.

Abstract

In his famous 1972 paper, Richard Lewontin used 'classical' protein-based markers to show that greater than 85% of human genetic diversity was contained within, rather than between, populations. At that time, these same markers also formed the basis of forensic technology aiming to identify individuals. This review describes the evolution of forensic genetic methods into DNA profiling, and how the field has accounted for the apportionment of genetic diversity in considering the weight of forensic evidence. When investigative databases fail to provide a match to a crime-scene profile, specific markers can be used to seek intelligence about a suspect: these include inferences on population of origin (biogeographic ancestry) and externally visible characteristics, chiefly pigmentation of skin, hair and eyes. In this endeavour, ancestry and phenotypic variation are closely entangled. The markers used show patterns of inter- and intrapopulation diversity that are very atypical compared to the genome as a whole, and reinforce an apparent link between ancestry and racial divergence that is not systematically present otherwise. Despite the legacy of Lewontin's result, therefore, in a major area in which genetics coincides with issues of public interest, methods tend to exaggerate human differences and could thereby contribute to the reification of biological race. This article is part of the theme issue 'Celebrating 50 years since Lewontin's apportionment of human diversity'.

摘要

在他 1972 年著名的论文中,理查德·莱文廷(Richard Lewontin)使用“经典”基于蛋白质的标记物表明,人类遗传多样性的 85%以上存在于种群内部,而不是种群之间。当时,这些相同的标记物也构成了旨在识别个体的法医技术的基础。这篇综述描述了法医遗传学方法如何演变为 DNA 指纹图谱,以及该领域如何在考虑法医证据权重时解释遗传多样性的分配。当调查数据库未能与犯罪现场的特征相匹配时,可以使用特定的标记物来寻找有关嫌疑人的情报:这些包括对原籍人口(生物地理祖先)和外部可见特征(主要是皮肤、头发和眼睛的色素沉着)的推断。在这一努力中,祖先和表型变异紧密交织在一起。与整个基因组相比,使用的标记物显示出种群内和种群间多样性的模式非常非典型,并强化了祖先和种族分化之间的明显联系,而这种联系在其他方面并不系统存在。尽管莱文廷的研究结果具有重要意义,但在遗传学与公众利益问题高度重合的主要领域,这些方法往往夸大了人类的差异,从而可能导致生物种族的具体化。本文是主题为“庆祝莱文廷(Lewontin)人类多样性分配 50 周年”的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbdf/9014189/487c4c231aec/rstb20200422f01.jpg

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