Mir K U, Southern E M
Department of Biochemistry, University of Oxford, Oxford OX1 3QU, United Kingdom.
Annu Rev Genomics Hum Genet. 2000;1:329-60. doi: 10.1146/annurev.genom.1.1.329.
The large-scale typing of sequence variation in genes and genomic DNA presents new challenges for which it is not clear that current technologies are sufficiently sensitive, robust, or scalable. This review surveys the current platform technologies: separation-based approaches, which include mass spectrometry; homogeneous assays; and solid-phase/array-based assays. We assess techniques for discovering and typing variation on a large scale, especially that of single-nucleotide polymorphisms. The in-depth focus is the DNA chip/array platform, and some of the published large-scale studies are closely examined. The problem of large-scale amplification is addressed, and emerging technologies for present and future needs are indicated.
对基因和基因组DNA中的序列变异进行大规模分型带来了新的挑战，目前尚不清楚现有技术是否足够灵敏、可靠或具备可扩展性。本文综述了当前的平台技术：基于分离的方法，包括质谱分析；均相分析；以及基于固相/芯片的分析。我们评估了用于大规模发现和分型变异的技术，尤其是单核苷酸多态性的相关技术。深入探讨的重点是DNA芯片/阵列平台，并仔细研究了一些已发表的大规模研究。文中还讨论了大规模扩增的问题，并指出了满足当前和未来需求的新兴技术。
