一步等位基因特异扩增法检测中国人N-乙酰化酶基因型  

One-step allele specific amplification for genotyping of NAT2 in Chinese subjects

作　　者：陈冰[1] 李金恒[1] 黄晶[2] 曹晓梅[1] 

机构地区：[1]第二军医大学南京临床学院南京军区南京总医院临床药理科,江苏南京210002 [2]南京大学医学院

出　　处：《中国临床药理学杂志》2004年第1期49-52,共4页The Chinese Journal of Clinical Pharmacology

摘　　要：目的建立简化的一步等位基因特异扩增法(ASA),研究中国人N-乙酰化酶(NAT2)多态性等位基因的分布。方法用一步法直接检测215名中国健康人NAT2 *5,*6,*7等位基因。结果一步法测定结果与两步法一致。215名健康中国人NAT2 *5,*6,*7 3种突变型等位基因的基因频率分别为3.3％,24.6％和10.0％。基因型分布符合Hardy-Weinberg平衡(P>0.05)。野生型纯合子、杂合子和突变型纯合子分别为85,96和34人,分别占39.5％,44.7％和15.8％。结论一步法测定NAT2基因准确、方便,为临床个体化合理用药提供理论基础。Objective To establish a simplified one-step allele specific PCR amplification (ASA) for study the distribution of alleles of NAT2 polymorphism. Methods A one-step ASA was used to determine * 5, * 6 and * 7 alleles in 215 healthy Chinese subjects. Results The results obtained from one-step ASA were in consistent with those from two-step ASA. The NAT2 allele frequencies of *5, *6, *7 were 3.3%, 24.6% and 10.0%, respectively. The NAT2 genotype distribution for all detected combinations of NAT2 alleles in 215 Chinese subjects was consistent with Hardy-Weinberg equilibrium (P>0.05). Homozygous wildtype, heterozygous mutant and homozygous mutant subjects were 85 (39.5%), 96 (44.7%) and 34 (15.8%), respectively. Conclusion One-step ASA was proved to be accurate and convenient. It provides a basis for the use in rational drug therapy.

关 键 词：一步等位基因特异扩增法 检测 中国人 N-乙酰化酶基因型 基因分型 

分 类 号：R318.04[医药卫生—生物医学工程]