日本人群中CYP2C18和CYP2C19突变等位基因的连锁关系。

Linkage of mutant alleles of CYP2C18 and CYP2C19 in a Japanese population.

作者信息

Kubota T, Hibi N, Chiba K

机构信息

Research Testing Department, SRL, Inc., Tokyo, Japan.

出版信息

Biochem Pharmacol. 1998 Jun 15;55(12):2039-42. doi: 10.1016/s0006-2952(98)00022-7.

DOI:10.1016/s0006-2952(98)00022-7

PMID:9714325

Abstract

The coincidence of mutated alleles of CYP2C18 and CYP2C19 was studied in 154 Japanese subjects. The mutant alleles of CYP2C18 studied were CYP2C18m1 (T204 --> A substitution in exon 2) and CYP2C18mFR (A-460 --> T substitution in the 5'-flanking region), and those of CYP2C19 were CYP2C19m1 (G689 --> A substitution in exon 5) and CYP2C19m2 (G636 --> A substitution in exon 4). They were identified by polymerase chain reaction and restriction fragment length polymorphism. The results indicate that genotypes of CYP2C18m1 and CYP2C18mFR are completely coincident with those of CYP2C19m2 and CYP2C19m1, respectively. The finding suggests that the mutations of CYP2C18 and CYP2C19 examined in the present study are very closely linked with each other (i.e. CYP2C18m1 vs CYP2C19m2 and CYP2C18mFR vs CYP2C19m1), at least in a Japanese population.

摘要

在154名日本受试者中研究了CYP2C18和CYP2C19突变等位基因的重合情况。所研究的CYP2C18突变等位基因为CYP2C18m1（外显子2中T204→A替换）和CYP2C18mFR（5'-侧翼区域中A-460→T替换），CYP2C19的突变等位基因为CYP2C19m1（外显子5中G689→A替换）和CYP2C19m2（外显子4中G636→A替换）。通过聚合酶链反应和限制性片段长度多态性对它们进行鉴定。结果表明，CYP2C18m1和CYP2C18mFR的基因型分别与CYP2C19m2和CYP2C19m1的基因型完全重合。这一发现表明，本研究中检测的CYP2C18和CYP2C19突变彼此之间紧密连锁（即CYP2C18m1与CYP2C19m2以及CYP2C18mFR与CYP2C19m1），至少在日本人群中如此。