细胞色素P-450IIc18（CYP2C18）基因及CYP2C亚家族一个新成员的遗传分析。

Genetic analysis of the cytochrome P-45OIIC18 (CYP2C18) gene and a novel member of the CYP2C subfamily.

作者信息

Tsuneoka Y, Matsuo Y, Okuyama E, Watanabe Y, Ichikawa Y

机构信息

Department of Biochemistry, Kagawa Medical School, Japan.

出版信息

FEBS Lett. 1996 Apr 22;384(3):281-4. doi: 10.1016/0014-5793(96)00329-8.

DOI:10.1016/0014-5793(96)00329-8

PMID:8617372

Abstract

The CYP2C18 gene was investigated in order to characterize its molecular basis in the CYP2C subfamily. A mutation of the CYP2C18 gene was identified at the 5'-flanking region of the gene, which could be detected by digestion with DdeI. The allele frequency of the mutant CYP2C18 gene was 21.4%. Genotypes of the polymorphic DdeI site of the CYP2C18 gene were found to be completely consistent with that of the polymorphic CYP2C19 gene (the m1 mutant). The CYP2C18 and CYP2C19 genes were suggested to be linked and located close together on the chromosome. Clones containing the 5'-flanking region of a member of the CYP2C subfamily were obtained from the PCR products from human genomic DNA. The nucleotide sequence of the clone proved to be 90.5% identical to the corresponding region of the CYP2C18 gene. This is very likely to be a novel member of the CYP2C subfamily.

摘要

为了表征其在CYP2C亚家族中的分子基础，对CYP2C18基因进行了研究。在该基因的5'侧翼区域鉴定出一个CYP2C18基因突变，该突变可通过DdeI酶切检测到。突变型CYP2C18基因的等位基因频率为21.4%。发现CYP2C18基因多态性DdeI位点的基因型与多态性CYP2C19基因（m1突变体）的基因型完全一致。提示CYP2C18和CYP2C19基因是连锁的，且在染色体上位置相近。从人基因组DNA的PCR产物中获得了包含CYP2C亚家族成员5'侧翼区域的克隆。该克隆的核苷酸序列与CYP2C18基因的相应区域有90.5%的同一性。这很可能是CYP2C亚家族的一个新成员。