Genetic polymorphisms of biotransformation enzymes: allele frequencies in the population of the Czech Republic
作者:
Jana Šarmanová,
Lucie Týnková,
Simona Šüsová,
Ivan Gut,
Pavel Soucek,
期刊:
Pharmacogenetics
(OVID Available online 2000)
卷期:
Volume 10,
issue 9
页码: 781-788
ISSN:0960-314X
年代: 2000
出版商: OVID
关键词: cytochromes P450;epoxide hydrolase;glutathione S-transferases;genotypes;ethnicity
数据来源: OVID
摘要:
Polymerase chain reaction-restriction fragment length polymorphism based genotyping assays were used to determine the frequency of polymorphisms inCYP1A1(3′-flanking region),CYP2E1(5′-flanking region and intron 6),EPHX(exon 3 and exon 4),GSTM1(deletion),GSTP1(exon 5) andGSTT1(deletion) in a group of 416 Czech individuals. A comprehensive overview of the methodology is also presented. We have found the following frequencies of mutated alleles:CYP1A1-m2, 0.097;CYP2E1-C, 0.077;CYP2E1-c2, 0.023;EPHX(exon 3)-His, 0.381;EPHX(exon 4)-Arg, 0.198;GSTM1-null, 0.51;GSTP1-Val, 0.3;GSTT1-null, 0.164. These values are similar to those presented in the majority of studies on European Caucasians, although a few cases of significant differences in the distribution of genotypes were found. These differences were most probably caused by methodological variations or statistical bias in the analyses of low numbers of samples in the control groups of some authors. Based on the results ofEPHXgenotyping, the activity of its protein product was deduced and the Czech population was divided into three subgroups with low, medium and high EPHX activity. We found that 43% of the Czech population would fall into the low, 44% into the medium and 13% into the high EPHX activity group. The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.
点击下载:
PDF
(164KB)
返 回