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首页> 外文期刊>Journal of human genetics >Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins.
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Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH:ubiquinone oxidoreductase flavoproteins.

机译:在编码三个有机阴离子转运蛋白,三个有机阴离子转运多肽和三个NADH:泛醌氧化还原酶黄素蛋白的基因中的258个单核苷酸多态性(SNP)目录。

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摘要

We present here a series of high-density maps of single-nucleotide polymorphisms (SNPs) detected in genes encoding three organic-anion transporters, three organic anion-transporting polypeptides, and three nicotinamide adenine dinucleotide, reduced:ubiquinone oxidoreductase flavoproteins. A total of 258 SNPs were identified among these nine genes through systematic screening of DNA from 48 Japanese individuals: 17 in 5' flanking regions, three in 5' untranslated regions, 13 in coding regions, 211 in introns, six in 3' untranslated regions, and 8 in 3' flanking regions. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, we determined that 236 (91.5%) were novel. In addition, 46 genetic variations of other types were discovered within these loci. These high-resolution maps will serve as a useful resource for analyzing potential associations between variations in these nine genes and differences in human susceptibilities to common diseases or response to drug therapies.
机译:我们在这里展示了一系列高密度的单核苷酸多态性(SNPs)图谱,这些图谱在编码三种有机阴离子转运蛋白,三种有机阴离子转运多肽和三种烟酰胺腺嘌呤二核苷酸的基因编码中被还原:泛醌氧化还原酶黄素蛋白。通过系统筛选来自48个日本人的DNA,在这9个基因中总共鉴定出258个SNP:5'侧翼区17个,5'非翻译区3个,编码区13个,内含子211个,3'非翻译区6个,以及位于3'侧翼区域中的8个。通过将我们的数据与国家生物技术信息中心的dbSNP数据库中存储的SNP进行比较,我们确定236种(91.5%)是新颖的。另外,在这些基因座中发现了46种其他类型的遗传变异。这些高分辨率图谱将作为有用的资源,用于分析这9个基因的变异与人类对常见疾病的敏感性或对药物疗法的敏感性之间的潜在关联。

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