目的 建立乙醇脱氢酶1B(ADH1B)基因rs1229984(G/A)和乙醛脱氢酶2基因rs671 (G/A)多态性的实时荧光定量PCR分型方法.方法 分别采用双TaqMan-MGB探针法建立ADH1B-rs1229984多态性,和ARMS-TaqMan探针法建立ALDH2-rs671多态性的实时荧光定量PCR分型方法.根据荧光定量PCR的循环阈值(Ct值)的差值△Ct值判定等位基因型,并采用所建方法对345例中国汉族人进行了分型检测.结果 所建方法对345例研究对象分型检测显示,ADH1B-rs1229984多态性的GG(ADH1B* 1/*1)、GA(ADH1B* 1/*2)和AA (ADH1B* 2/*2)型的△Ct值(△Ct=G型TaqMan-MGB探针Ct值-A型TaqMan-MGB探针Ct值)分别为-13.72±1.33(40例)、0.50±0.17(150例)和6.62 ±0.54(155例);ALDH2-rs671的GG(ALDH2* 1/*1)、GA(ALDH2* 1/*2)和AA (ALDH2*2/*2)型的△Ct值(△Ct=G引物反应体系Ct值-A引物反应体系Ct值)分别为-15.30±0.84(239例)、0.17 ±0.45(96例)和15.86±0.74(10例).345例研究对象中,ADH1B* 1/*2和AL-DH2* 1/* 1(31.3％)、ADH1B*2/*2和ALDH2* 1/* 1(28.7％)是2个等位基因的主要组合型(60％),未见ADH1B* 1/*1和ALDH2 * 2/*2组合型.结论 所建分型检测方法皆具有闭管、一步检测、准确和高通量等特点.“,”Objective To develop novel methods for genotyping alcohol dehydrogenase 1 B gene (ADH1 B)-rs1229984 (G/A) and aldehyde dehydrogenase 2 (ALDH2)-rs671 (G/A) polymorphisms.Methods The dual TaqMan-MGB probes for ADH1B-rs1229984 and amplification refractory mutation system combined a TaqMan probe (ARMS-TaqMan) for ALDH2-rs671 polymorphisms were used in developing the methods in a real-time PCR,respectively.The genotyping results were obtained by monitoring the difference of cycle threshold values (△Ct) in the assays.Moreover,345 Han subjects were genotyped for evaluating the established assays,respectively.Results In 345 subjects,The △Ct (△Ct =G allele TaqMan-MGB probe Ct values minus A allele TaqMan-MGB probe Ct values) forGG (ADH1B* 1/* 1),GA (ADH1B* 1/*2) and AA (ADH1B*2/*2) of ADH1B-rs1229984 polymorphisms were -13.72 ± 1.33 (40 cases),0.50 ± 0.17 (150 cases) and 6.62 ± 0.54 (155 cases),and the △Ct (△Ct =G allele-special primer Ct values minus A allele-special primer Ct values) for GG (ALDH2 * 1/* 1),GA (ALDH2 * 1/* 2) and AA (ALDH2 * 2/* 2) of ALDH2-rs671 polymorphisms were-15.30 ±0.84 (239 cases),0.17 ±0.45 (96 cases) and 15.86 ±0.74 (10 cases),respectively.The main allelic combination types were ADH1B * 1/* 2 vs ALDH2 * 1/* 1 (31.3％) and ADH1B * 2/* 2 vs ALDH2 * 1/* 1 (28.7％),and no ADH1B * 1/* 1 vs ALDH2 * 2/* 2 types were observed in 345 Han subjects.Conclusion Both of the novel assays had the features of accuracy,one step and high-throughput for the genotyping.