Iida Aritoshi, Nakamura Yusuke
Laboratory for Pharmacogenetics, Research Group of Personalized Medicine, RIKEN SNP Research Center, c/o RIKEN Yokohama Institute, 1-7-22 Suenhiro-cho Tsurumi, Yokohama, Kanagawa, 230-0045, Japan.
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
J Hum Genet. 2005;50(4):182-191. doi: 10.1007/s10038-005-0238-8. Epub 2005 Apr 12.
We have been performing extensive screening on single nucleotide polymorphisms (SNPs) in and around genes encoding drug metabolizing enzymes, transporters, and receptors and have constructed the high-density SNP maps of such gene regions. In addition to genetic information reported earlier, we identified a total of 390 genetic variations, 358 SNPs and 32 genetic variations of other types, detected in 29 genes encoding G-protein coupled receptors in Japanese populations. Following a comparison of our data with SNPs in the dbSNP database in the US National Center for Biotechnology Information, 156 SNPs from these gene loci are considered to be novel. The fine-scale SNP maps constructed in this study should serve an important resource for studies of linkage-disequilibrium mapping for complex genetic diseases and drug-response phenotypes.
我们一直在对编码药物代谢酶、转运蛋白和受体的基因及其周围的单核苷酸多态性(SNP)进行广泛筛选,并构建了此类基因区域的高密度SNP图谱。除了先前报道的遗传信息外,我们在日本人群中编码G蛋白偶联受体的29个基因中总共鉴定出390个遗传变异,其中包括358个SNP和32个其他类型的遗传变异。将我们的数据与美国国立生物技术信息中心dbSNP数据库中的SNP进行比较后,这些基因位点中的156个SNP被认为是新的。本研究构建的精细SNP图谱应为复杂遗传疾病和药物反应表型的连锁不平衡图谱研究提供重要资源。