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Variations on a Chip: Technologies of Difference in Human Genetics Research
Journal of the History of Biology ( IF 0.7 ) Pub Date : 2018-10-18 , DOI: 10.1007/s10739-018-9543-x
Ramya M Rajagopalan 1 , Joan H Fujimura 2
Affiliation  

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.

中文翻译:

芯片上的变异:人类遗传学研究中的差异技术

在本文中,我们研究了微阵列技术的产生历史及其在构建和实施当代基因组学中人类遗传差异观点中的作用。对个体和群体差异的兴趣并不是后人类基因组计划(HGP)现象中出现的“转向差异”,而是整个二十世纪人类遗传学的一个核心、激励性概念。这种兴趣与开发用于研究人类特征和疾病的多态性“遗传标记”的努力交织在一起。我们追溯了 20 世纪末的技术、方法和概念策略,这些策略将单核苷酸多态性 (SNP) 作为定位基因组差异的关键焦点。通过将单核苷酸多态性 (SNP) 嵌入微阵列中,研究人员创建了一种用于编目和评估人类遗传变异的技术。在制造遗传标记和基于阵列的技术来跟踪变异的过程中,科学家们还致力于寻找描述、编目和“了解”人类遗传差异的方法,这些差异通过大陆地理镜头折射差异。我们展示了差异如何在该术语的两种意义上变得重要:由于医学基因组学研究中合作和混合研究集体的决策、评估和选择,差异被突出并铭刻在遗传物质上。
更新日期:2018-10-18
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