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芯片上的变异:人类遗传学研究中的差异技术

Variations on a Chip: Technologies of Difference in Human Genetics Research.

作者信息

Rajagopalan Ramya M, Fujimura Joan H

机构信息

Institute for Practical Ethics, University of California, San Diego, 9500 Gilman Drive, MC 0406, San Diego, CA, 92093, USA.

Department of Sociology and Holtz Center for Science and Technology Studies, University of Wisconsin-Madison, 8128 Sewell Social Sciences Building 1180 Observatory Drive, Madison, WI, 53706, USA.

出版信息

J Hist Biol. 2018 Dec;51(4):841-873. doi: 10.1007/s10739-018-9543-x.

Abstract

In this article we examine the history of the production of microarray technologies and their role in constructing and operationalizing views of human genetic difference in contemporary genomics. Rather than the "turn to difference" emerging as a post-Human Genome Project (HGP) phenomenon, interest in individual and group differences was a central, motivating concept in human genetics throughout the twentieth century. This interest was entwined with efforts to develop polymorphic "genetic markers" for studying human traits and diseases. We trace the technological, methodological and conceptual strategies in the late twentieth century that established single nucleotide polymorphisms (SNPs) as key focal points for locating difference in the genome. By embedding SNPs in microarrays, researchers created a technology that they used to catalog and assess human genetic variation. In the process of making genetic markers and array-based technologies to track variation, scientists also made commitments to ways of describing, cataloging and "knowing" human genetic differences that refracted difference through a continental geographic lens. We show how difference came to matter in both senses of the term: difference was made salient to, and inscribed on, genetic matter(s), as a result of the decisions, assessments and choices of collaborative and hybrid research collectives in medical genomics research.

摘要

在本文中,我们考察了微阵列技术的产生历史及其在当代基因组学中构建和实施人类基因差异观点方面所起的作用。并非对差异的关注是后人类基因组计划(HGP)出现的一种现象,对个体和群体差异的兴趣在整个20世纪都是人类遗传学的核心驱动概念。这种兴趣与开发用于研究人类性状和疾病的多态性“遗传标记”的努力交织在一起。我们追溯了20世纪后期的技术、方法和概念策略,这些策略将单核苷酸多态性(SNP)确立为在基因组中定位差异的关键焦点。通过将SNP嵌入微阵列中,研究人员创造了一种用于编目和评估人类基因变异的技术。在制作遗传标记和基于阵列的追踪变异技术的过程中,科学家们还对描述、编目和“了解”人类基因差异的方式做出了承诺,这些方式通过大陆地理视角折射差异。我们展示了差异在该术语的两种意义上是如何变得重要的:由于医学基因组学研究中合作与混合研究群体的决策、评估和选择,差异在遗传物质上变得显著并被铭刻在其上。

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