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本文对等位基因特异性ＰＣＲ（Ａｌｅｌｅｓｐｅｃｉｆｉｃ，ＡＳ）和多重差别（Ｍｕｌｔｉｐｌｅｘｄｉｆｅｒｅｎｔｉａｌ，ＭＤ）ＰＣＲ技术进行了优化，并用此法联合检测了１０５例江苏地区健康人群及６８例肺癌患者ＣＹＰ１Ａ１、ＧＳＴＭ１的等位基因型。结果表明：ＡＳＰＣＲ及ＭＤＰＣＲ采用的设立双参照扩增体系，可一次同时检测ＣＹＰ１Ａ１和ＧＳＴＭ１的等位基因型。在肺癌患者组中，ＣＹＰ１Ａ１的突变型Ｖａｌ／Ｖａｌ的频率１２／６８（１７．６％）约为健康组９／１０５（８．５７％）的２０５倍，而ＧＳＴＭ１纯合缺失的频率，肺癌组为３９／６８（５７３％），与健康对照组４２／１０５（４０％）相比，亦有显著增加（Ｐ＜０．０５）。
In this study, allele-specific (AS) and multiplex (MD) PCR techniques were optimized, and a total of 105 healthy individuals in Jiangsu and 68 patients with lung cancer CYP1A1 were detected using this method. Allelic types of GSTM1. The results showed that the double-reference amplification system established by AS-PCR and MD-PCR can simultaneously detect the alleles of CYP1A1 and GSTM1 at the same time. In the lung cancer patient group, the frequency of the Val/Val mutant of CYP1A1 was 12/68 (17.6%) approximately 2.0 times higher than that of the healthy group 9/105 (8.57%), and the frequency of the GSTM1 homozygous deletion The lung cancer group was 39/68 (57. 3%), and there was also a significant increase compared with the healthy control group 42/105 (40%) (P < 0.05).