Zhao B, Lee E J, Wong J Y, Yeoh P N, Gong N H
Department of Pharmacology, National University of Singapore.
Pharmacogenetics. 1995 Oct;5(5):275-80. doi: 10.1097/00008571-199510000-00002.
Several xenobiotic metabolizing enzymes, including CYP1A1, NAT2 and GSTM1, are subject to genetic polymorphisms. Because these enzymes are important for the detoxification and/or bioactivation of drugs and carcinogens, these polymorphisms have important implications in therapeutics and cancer susceptibility. The distributions of CYP1A1, NAT2 and GSTM1 genotype frequencies in unrelated individuals of the Indian (n = 139) and Malay (n = 146) populations were characterized by the polymerase chain reaction. The respective allelic frequencies of wild-type and mutant alleles of CYP1A1 were 0.82 and 0.18 for the Indians, and 0.69 and 0.31 for the Malays. The frequencies of wild-type, M1, M2 and M3 of NAT2 among Indians were 0.44, 0.20, 0.32 and 0.04 respectively. The corresponding NAT2 allelic frequencies in Malays were 0.41, 0.12, 0.38 and 0.09. The GSTM1A allele could not be amplified in 33.1% of Indians and 61.6% of Malays. At least one GSTM1B allele was detected in 7.2% and 7.5% of the respective populations. The allelic frequencies of CYP1A1, NAT2 and GSTM1 among Malays are similar to previously reported frequencies among Chinese in the region. These findings will be of importance in the determination of cancer risks in these populations.
包括CYP1A1、NAT2和GSTM1在内的几种外源性物质代谢酶存在基因多态性。由于这些酶对药物和致癌物的解毒和/或生物活化很重要，所以这些多态性在治疗学和癌症易感性方面具有重要意义。采用聚合酶链反应对印度人群（n = 139）和马来人群（n = 146）中无关个体的CYP1A1、NAT2和GSTM1基因型频率分布进行了表征。CYP1A1野生型和突变型等位基因在印度人中的各自等位基因频率分别为0.82和0.18，在马来人中分别为0.69和0.31。NAT2野生型、M1、M2和M3在印度人中的频率分别为0.44、0.20、0.32和0.04。马来人中相应的NAT2等位基因频率分别为0.41、0.12、0.38和0.09。在33.1%的印度人和61.6%的马来人中无法扩增出GSTM1A等位基因。在各自人群中分别有7.2%和7.5%检测到至少一个GSTM1B等位基因。马来人中CYP1A1、NAT2和GSTM1的等位基因频率与该地区先前报道的中国人中的频率相似。这些发现对于确定这些人群中的癌症风险具有重要意义。
