Chambers Geoffrey K, Curtis Caitlin, Millar Craig D, Huynen Leon, Lambert David M
Environmental Futures Research Institute, Griffith University, Nathan, QLD 4111, Australia.
Investig Genet. 2014 Feb 3;5(1):3. doi: 10.1186/2041-2223-5-3.
In 1962, Thomas Kuhn famously argued that the progress of scientific knowledge results from periodic 'paradigm shifts' during a period of crisis in which new ideas dramatically change the status quo. Although this is generally true, Alec Jeffreys' identification of hypervariable repeat motifs in the human beta-globin gene, and the subsequent development of a technology known now as 'DNA fingerprinting', also resulted in a dramatic shift in the life sciences, particularly in ecology, evolutionary biology, and forensics. The variation Jeffreys recognized has been used to identify individuals from tissue samples of not just humans, but also of many animal species. In addition, the technology has been used to determine the sex of individuals, as well as paternity/maternity and close kinship. We review a broad range of such studies involving a wide diversity of animal species. For individual researchers, Jeffreys' invention resulted in many ecologists and evolutionary biologists being given the opportunity to develop skills in molecular biology to augment their whole organism focus. Few developments in science, even among the subsequent genome discoveries of the 21st century, have the same wide-reaching significance. Even the later development of PCR-based genotyping of individuals using microsatellite repeats sequences, and their use in determining multiple paternity, is conceptually rooted in Alec Jeffreys' pioneering work.
1962年，托马斯·库恩提出了一个著名的观点，即科学知识的进步源于在危机时期发生的周期性“范式转变”，在此期间，新思想会极大地改变现状。虽然总体情况确实如此，但亚历克·杰弗里斯对人类β-珠蛋白基因中高变重复基序的识别，以及随后一项如今被称为“DNA指纹识别”技术的发展，也给生命科学带来了巨大转变，尤其是在生态学、进化生物学和法医学领域。杰弗里斯所识别出的这种变异不仅被用于从人类的组织样本中识别个体，还被用于识别许多动物物种的个体。此外，该技术还被用于确定个体的性别、亲子关系/母子关系以及近亲关系。我们回顾了一系列涉及广泛动物物种的此类研究。对于个体研究人员而言，杰弗里斯的发明让许多生态学家和进化生物学家有机会发展分子生物学技能，以补充他们对整个生物体的研究重点。在科学领域，即使是21世纪后续的基因组发现中，也很少有像这样具有广泛深远意义的进展。甚至后来利用微卫星重复序列对个体进行基于聚合酶链反应（PCR）的基因分型，以及将其用于确定多重父系身份的方法，在概念上都源于亚历克·杰弗里斯的开创性工作。
