Novel nonsynonymous single nucleotide polymorphisms in the CYP2D6 gene.
Novel nonsynonymous single nucleotide polymorphisms in the CYP2D6 gene.
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DOI：
10.2133/dmpk.19.313
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发表时间：
2004-08-01
影响因子：
2.1
通讯作者：
Sawada, Jun-ichi
中科院分区：
文献类型：
--
作者：
Soyama, Akiko;Kubo, Takashi;Sawada, Jun-ichi
细胞色素P450（CYP）2D 6是一种重要的药物代谢酶，其基因具有高度多态性。在这里，我们报告了5个新的非同义单核苷酸多态性（SNPs），和65个其他序列变异检测的基因编码细胞色素P450（P450）2D 6在254名日本受试者。两个新的非同义SNP与 *10关键SNP C100 T相关。在65个变异中，23个是新的，包括12个5 '-侧翼的SNPs，1个5'-非翻译的SNPs，和10个内含子区域。CYP 2D 6基因的非同义SNPs依次为：73 C>T（Arg 25 Trp，exon 1），972 C>T（Ala 90 Val，exon 2），1611 T>A（Phe 120 Ile，exon 3），1720 A>C（Glu 156 Ala，exon 3），3172 A>C（Glu 334 Ala，exon 7）。73 C>T、972 C>T、1611 T>A、1720 A>C和3172 A>C分别与 *10、*1、*10、*1和 *2连锁。
Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Japanese subjects. Two of the novel nonsynonymous SNPs were associated with the *10 key SNP, C100T. Among the 65 variations, 23 were novel, including 12 SNPs in 5'-flanking, 1 in 5'-untranslated, and 10 in intronic regions. The nonsynonymous SNPs in the CYP2D6 gene were as follows: 73 C>T (Arg25Trp, exon 1), 972 C>T (Ala90Val, exon 2), 1611 T>A (Phe120Ile, exon 3), 1720 A>C (Glu156Ala, exon 3), 3172 A>C (Glu334Ala, exon 7). The SNPs, 73C>T, 972 C>T, 1611 T>A, 1720 A>C and 3172 A>C were linked with *10, *1, *10, *1 and *2, respectively.