Novel single nucleotide polymorphisms in the CYP2D6 gene associated with CYP2D6*2 and/or CYP2D6*10 alleles.
Novel single nucleotide polymorphisms in the CYP2D6 gene associated with CYP2D6*2 and/or CYP2D6*10 alleles.
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CYP2D6 基因中与 CYP2D6*2 和/或 CYP2D6*10 等位基因相关的新型单核苷酸多态性。
DOI：
10.2133/dmpk.17.475
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发表时间：
2002
影响因子：
2.1
通讯作者：
J. Sawada
中科院分区：
文献类型：
--
作者：
A. Soyama;Yoshiro Saito;K. Komamura;K. Ueno;S. Kamakura;S. Ozawa;J. Sawada
在90名日本人的细胞色素（CYP） 2D6基因的1、3、4、5和7内含子中发现了新的单核苷酸多态性（snp）。其中一些snp与C2850T和/或C100T相关，它们分别是CYP2D6(*)2和CYP2D6(*)10的关键snp。CYP2D6基因的SNP （ACCESSION NUMBER, M33388）被指定如下：与C2850T相关的SNP， MPJ6_2D6010 (IVS1-138C>G)；与C100T、C2850T和G4180C相关的SNP， MPJ6_2D6012 (IVS1-41T>G)；Snp, mpj6_2d6016 (ivs3 + 32a > g)；Snp, mpj6_2d6017 (ivs4-17c > g)；Snp, mpj6_2d6018 (ivs4-17c > t)；Snp, mpj6_2d6020 (ivs5 + 46g > a)；Snp, mpj6_2d6021 (ivs5-49t > c)；SNP, MPJ6_2D6023 （IVS7+40A>C）与C100T， C2850T和G4180C相关；Snp, mpj6_2d6024 (ivs7 + 64t > c)；以及与C2850T相关的SNP， MPJ6_2D6025 （IVS7-9C>T）。这些snp便于等位基因分型，应进一步研究它们对转录的潜在影响，如剪接。
Novel single nucleotide polymorphisms (SNPs) were found in introns 1, 3, 4, 5, and 7 of the gene encoding cytochrome (CYP) 2D6 in 90 Japanese subjects. Some of these SNPs were associated with C2850T and/or C100T, which are key SNPs for CYP2D6(*)2 and CYP2D6(*)10, respectively. The SNPs in the CYP2D6 gene (ACCESSION NUMBER, M33388) were designated as follows: SNP, MPJ6_2D6010 (IVS1-138C>G) associated with C2850T; SNP, MPJ6_2D6012 (IVS1-41T>G) associated with C100T, C2850T and G4180C; SNP, MPJ6_2D6016 (IVS3+32A>G); SNP, MPJ6_2D6017 (IVS4-17C>G); SNP, MPJ6_2D6018 (IVS4-17C>T); SNP, MPJ6_2D6020 (IVS5+46G>A); SNP, MPJ6_2D6021 (IVS5-49T>C); SNP, MPJ6_2D6023 (IVS7+40A>C) associated with both C100T, C2850T and G4180C; SNP, MPJ6_2D6024 (IVS7+64T>C); and SNP, MPJ6_2D6025 (IVS7-9C>T) associated with C2850T. These SNPs are convenient for allele typing and should be further investigated for their potential effects on transcription, such as splicing.