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泰米尔人群中CYP2C19的等位基因和基因型频率。

Allele and genotype frequency of CYP2C19 in a Tamilian population.

作者信息

Adithan C, Gerard N, Vasu S, Rosemary J, Shashindran C H, Krishnamoorthy R

机构信息

Pharmacogenomics Laboratory, Department of Pharmacology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry-605006, India.

出版信息

Br J Clin Pharmacol. 2003 Sep;56(3):331-3. doi: 10.1046/j.1365-2125.2003.01883.x.

DOI:10.1046/j.1365-2125.2003.01883.x
PMID:12919183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1884356/
Abstract

AIMS

To investigate the frequencies of CYP2C191, CYP2C192 and CYP2C19*3 alleles and CYP2C19 genotypes in a Tamilian population.

METHODS

The study was conducted in 112 unrelated healthy human volunteers. DNA was extracted from leucocytes and analyzed by the PCR-RFLP protocol. The PCR product was digested with restriction enzymes (SmaI and BamH1) and then separated electrophoretically using polyacrylamide gel.

RESULTS

The frequencies of the CYP2C19*1, *2 and 3 alleles were 0.598 [95% confidence interval (CI) 0.507, 0.689], 0.379 (95% CI, 0.350,0.407) and 0.022 (95% CI -0.005, 0.049), respectively. The distribution of CYP2C191/*1,*1/*2, *1/*3, *2/*2 and *2/*3 genotypes were 0.295 (95% CI, 0.210, 0.379), 0.580 (95% CI, 0.488, 0.671), 0.027 (95% CI -0.003, 0.057), 0.080 (95% CI 0.030, 0.130) and 0.018 (95% CI -0.006, 0.042), respectively.

CONCLUSIONS

The distribution of CYP2C19*1/1 in the Tamilian population is lower than that in Caucasians, Africans and the North Indian population. The CYP2C191/2 is significantly higher in Tamilians when compared with other populations. The CYP2C191/*3 allele, which was not reported in the North Indian and Caucasian populations has been identified in 2.7% of the Tamilian population.

摘要

目的

研究泰米尔人群中CYP2C191、CYP2C192和CYP2C19*3等位基因的频率以及CYP2C19基因型。

方法

对112名无亲缘关系的健康人类志愿者进行研究。从白细胞中提取DNA,并通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法进行分析。PCR产物用限制性内切酶(SmaI和BamH1)消化,然后使用聚丙烯酰胺凝胶进行电泳分离。

结果

CYP2C191、2和3等位基因的频率分别为0.598[95%置信区间(CI)0.507,0.689]、0.379(95%CI,0.350,0.407)和0.022(95%CI -0.005,0.049)。CYP2C191/*1、*1/*2、*1/*3、*2/2和2/*3基因型的分布分别为0.295(95%CI,0.210,0.379)、0.580(95%CI,0.488,0.671)、0.027(95%CI -0.003,0.057)、0.080(95%CI 0.030,0.130)和0.018(95%CI -0.006,0.042)。

结论

泰米尔人群中CYP2C19*1/1的分布低于高加索人、非洲人和北印度人群。与其他人群相比,泰米尔人中CYP2C191/2的比例显著更高。在北印度人和高加索人群中未报道的CYP2C191/*3等位基因在2.7%的泰米尔人群中被发现。

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