Gibson Neil J
AstraZeneca Pharmaceuticals, 19G9, Mereside, Alderley Park, Macclesfield, SK10 4TG, UK.
Expert Rev Mol Diagn. 2006 May;6(3):451-64. doi: 10.1586/14737159.6.3.451.
The scope of single nucleotide polymorphism genotyping for genetic association studies has expanded recently from the use of relatively small numbers of candidate genes and markers, to include hypothesis-free, whole-genome approaches using hundreds of thousands of polymorphisms. The ability to perform such large-scale association studies has been dependant on the development of highly parallel and cost-effective genotyping platforms, of which those based on oligonucleotide arrays have proved to be the most scalable and widely adopted. It is to be expected that the new array-based genotyping methods will not only greatly expand the scope of genetic studies, but, as further content is added to arrays, will also form part of an integrated set of DNA, RNA and proteomic analyses enabling the detailed, multilayered study of complex disease-linked phenotypes.
遗传关联研究中，单核苷酸多态性基因分型的范围最近已从使用相对少量的候选基因和标记物，扩展到包括使用数十万个多态性的无假设全基因组方法。进行此类大规模关联研究的能力依赖于高度并行且经济高效的基因分型平台的发展，其中基于寡核苷酸阵列的平台已被证明是扩展性最强且应用最广泛的。可以预期，新的基于阵列的基因分型方法不仅将极大地扩展遗传研究的范围，而且随着阵列中进一步添加内容，还将成为DNA、RNA和蛋白质组学综合分析的一部分，从而能够对与复杂疾病相关的表型进行详细的多层次研究。
