Saito Susumu, Iida Aritoshi, Sekine Akihiro, Kawauchi Saori, Higuchi Shoko, Ogawa Chie, Nakamura Yusuke
Laboratory for Genotyping, SNP Research Center, Institute of Physical and Chemical Research , Yokohama Institute, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
J Hum Genet. 2003;48(9):461-468. doi: 10.1007/s10038-003-0062-y. Epub 2003 Aug 30.
We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight genes encoding G protein-coupled receptors (GPCRs) by directly sequencing the entire relevant genomic regions except for repetitive-sequence elements. This approach identified 147 SNPs and 31 insertion/deletion polymorphisms among the eight GPCR genes. On average, we identified one SNP in every 584 nucleotides. Of the 147 SNPs, 69 were identified in AGTR1, 12 in AGTR2, nine in AGTRL1, 20 in AVPR1A, nine in AVPR2, 16 in DRD1, six in ITGA2B, and six in PTGIR. Twenty-one SNPs were located in 5' flanking regions, 76 in introns, 32 in exons, and 18 in 3' flanking regions. These variants should contribute to investigations of possible correlations between genotypes and phenotypes as regards susceptibility to disease or responsiveness to drug therapy.
我们通过直接对除重复序列元件外的整个相关基因组区域进行测序，筛查了48名日本个体的DNA，以寻找编码G蛋白偶联受体（GPCR）的8个基因中的单核苷酸多态性（SNP）。该方法在8个GPCR基因中鉴定出147个SNP和31个插入/缺失多态性。平均而言，我们在每584个核苷酸中鉴定出一个SNP。在147个SNP中，69个在AGTR1中鉴定出，12个在AGTR2中，9个在AGTRL1中，20个在AVPR1A中，9个在AVPR2中，16个在DRD1中，6个在ITGA2B中，6个在PTGIR中。21个SNP位于5'侧翼区域，76个在内含子中，32个在外显子中，18个在3'侧翼区域。这些变异应有助于研究疾病易感性或药物治疗反应方面的基因型与表型之间可能的相关性。
