日本个体中CYP2B6基因的三个新型单核苷酸多态性（SNP）。
Three novel single nucleotide polymorphisms (SNPs) of the CYP2B6 gene in Japanese individuals.
作者信息
Hiratsuka Masahiro, Hinai Yudai, Konno Yumiko, Nozawa Hisayoshi, Konno Shoetsu, Mizugaki Michinao
机构信息
Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan.
出版信息
Drug Metab Pharmacokinet. 2004 Apr;19(2):155-8. doi: 10.2133/dmpk.19.155.
We sequenced all exons and exon-intron junctions of the CYP2B6 gene from 200 Japanese individuals. We found three novel single nucleotide polymorphisms (SNPs) (1375A>G, 1427G>A and 1454A>T) causing amino acid substitutions (Met(459)Val, Gly(476)Asp and Gln(485)Leu in exon 9), respectively. The detected SNP was as follows: 1) SNP, 031226Hiratsuka01; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CAGAACTTCTCCA/GTGGCCAGCCCCG-3'. 2) SNP, 031226Hiratsuka02; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCAGGAGTGTGG/ATGTGGGCAAAAT-3'. 3) SNP, 031226Hiratsuka03; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCCAACATACCA/TGATCCGCTTCCT-3'.
我们对200名日本个体的CYP2B6基因的所有外显子和外显子 - 内含子连接区域进行了测序。我们发现了三个新的单核苷酸多态性（SNP）（1375A>G、1427G>A和1454A>T），它们分别导致了氨基酸替换（外显子9中的Met(459)Val、Gly(476)Asp和Gln(485)Leu）。检测到的SNP如下：1）SNP，031226Hiratsuka01；基因名称，CYP2B6；登录号，AC023172；长度，25个碱基；5'-CAGAACTTCTCCA/GTGGCCAGCCCCG-3'。2）SNP，031226Hiratsuka02；基因名称，CYP2B6；登录号，AC023172；长度，25个碱基；5'-CCCAGGAGTGTGG/ATGTGGGCAAAAT-3'。3）SNP，031226Hiratsuka03；基因名称，CYP2B6；登录号，AC023172；长度，25个碱基；5'-CCCCAACATACCA/TGATCCGCTTCCT-3'。
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