Haga Hisanori, Yamada Ryo, Ohnishi Yozo, Nakamura Yusuke, Tanaka Toshihiro
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Japan.
J Hum Genet. 2002;47(11):605-10. doi: 10.1007/s100380200092.
To construct an infrastructure for genome-wide association studies of common diseases or drug sensitivities, we have been systematically exploring common variants by resequencing genomic regions containing genes in DNA from 24 Japanese individuals. We have analyzed a total of 154 Mb, corresponding to approximately 5% of the human genome, and so far have identified 174,269 single-nucleotide polymorphisms and 16,293 insertion/deletion polymorphisms within gene regions, i.e., one polymorphism in 807 bp on average. Our data are freely available via our web site (http://snp.ims.u-tokyo.ac.jp) and will facilitate studies to identify genes associated with susceptibility to common diseases and genes involved in sensitivity to therapeutic drugs.
为构建常见疾病或药物敏感性全基因组关联研究的基础设施，我们通过对24名日本人的DNA中包含基因的基因组区域进行重测序，系统地探索了常见变异。我们总共分析了154兆碱基对，约占人类基因组的5%，到目前为止，已在基因区域内鉴定出174269个单核苷酸多态性和16293个插入/缺失多态性，即平均每807碱基对中有一个多态性。我们的数据可通过我们的网站（http://snp.ims.u-tokyo.ac.jp）免费获取，这将有助于开展研究，以鉴定与常见疾病易感性相关的基因以及参与治疗药物敏感性的基因。
