SNP discovery and typing technologies for pharmacogenomics.
SNP discovery and typing technologies for pharmacogenomics.
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药物基因组学的 SNP 发现和分型技术。
DOI：
10.2174/1568026043387656
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发表时间：
2004
影响因子：
3.4
通讯作者：
R. Twyman
中科院分区：
文献类型：
--
作者：
R. Twyman
人类基因组中的遗传变异主要以单核苷酸多态性（SNP）的形式发生。我们的DNA可能包含多达一千万个SNP，其中三百万个或更多的SNP可能在任何两个无关的个体之间存在差异。这300万个基因差异对观察到的复杂人类表型的变异做出了重大贡献，例如疾病易感性和我们对药物或环境化学品的反应。在整个药物开发过程中进行的大规模关联研究可以帮助识别这种差异，并为特定的基因型类别定制药物和剂量方案。这种大规模研究的需要推动了高通量SNP发现和分型技术的发展，这是本文的主题。
Genetic variation in the human genome occurs predominantly as single nucleotide polymorphisms (SNPs). Our DNA may contain as many as ten million SNPs, of which three million or more are likely to differ between any two unrelated individuals. These three million genetic differences make a significant contribution to the observed variation in complex human phenotypes, such as disease susceptibility and our responses to drugs or environmental chemicals. Large-scale association studies taking place throughout the drug development process can help to identify such differences and tailor drugs and dose regimens to particular genotype classes. The need for such large-scale studies has driven the development of high-throughout SNP discovery and typing technologies, which are the subject of this review.