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土耳其人群中CYP1A2基因四种遗传多态性的频率。

Frequencies of four genetic polymorphisms in the CYP1A2 gene in Turkish population.

作者信息

Bilgen T, Tosun O, Luleci G, Keser I

机构信息

Akdeniz University, Faculty of Medicine, Department of Medical Genetics, Antalya, Turkey.

出版信息

Genetika. 2008 Aug;44(8):1133-6.

Abstract

Cytochrome P450 (CYP) 1A2 gene is involved in the metabolic activation of several carcinogens and altered metabolization of some clinically used drugs. We aimed to investigate the distributions of genetic polymorphisms -3860 (G/A)(CYP1A21C) and -2467 (T/del)(CYP1A21D) in the 5'-flanking region and -739 (T/G)(CYP1A21E) and -163(C/A)(CYP1A21F) in the first intron of the CYP1A2 gene in 110 unrelated healthy Turkish volunteers by PCR-RFLP technique. The frequencies of each polymorphism in Turkish population were found as 0.04, 0.92, 0.01, 0.27 for CYP1A21C, CYP1A21D, CYP1A21E, CYP1A21F, respectively. Compared with other populations, CYP1A21D has been found to be significantly increased in Turkish population. On the other hand, in general, the frequencies of the other polymorphisms were concordant with those in the Egyptian and Caucasian populations, and were different from those in the Japanese, Chinese and Ethiopian populations. Our results suggest that due to increased frequency of CYP1A21D in Turkish population, functional significance of CYP1A21D should be evaluated. It might be screened to determine the relationship between CYP1A21D and CYP1A2 related drug metabolisms in associated groups.

摘要

细胞色素P450(CYP)1A2基因参与多种致癌物的代谢激活以及一些临床用药的代谢改变。我们旨在通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,研究110名无亲缘关系的健康土耳其志愿者中,CYP1A2基因5'侧翼区的-3860(G/A)(CYP1A21C)和-2467(T/del)(CYP1A21D)以及第一内含子中的-739(T/G)(CYP1A21E)和-163(C/A)(CYP1A21F)基因多态性的分布情况。土耳其人群中各多态性的频率分别为:CYP1A21C为0.04,CYP1A21D为0.92,CYP1A21E为0.01,CYP1A21F为为0.27。与其他人群相比,CYP1A21D在土耳其人群中的频率显著增加。另一方面,总体而言,其他多态性的频率与埃及和白种人群体中的频率一致,与日本、中国和埃塞俄比亚人群体中的频率不同。我们的结果表明,由于CYP1A21D在土耳其人群中的频率增加,应评估CYP1A21D的功能意义。在相关群体中,可能需要对其进行筛查以确定CYP1A21D与CYP1A2相关药物代谢之间的关系。

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