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利用聚合酶链反应－限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）技术对８３名正常中国人ＣＹＰ２Ｄ６基因的第１号和第９号外显子的多态性做了分析。结果发现，在ＣＹＰ２Ｄ６基因的第１８８位点Ｃ→Ｔ的频率为０．５９，第４２６８位点Ｇ→Ｃ的频率为０．６６，而且Ｔ１８８／Ｔ１８８纯合子及Ｃ４２６８／Ｃ４２６８纯合子的比率分别为０．３８和０．３４。与国外报道比较，发现中国人ＣＹＰ２Ｄ６基因的这２个位点的多态性分布规律与西方人有明显的不同。这可能有助于解释中国人在药物代谢及某些疾病（如帕金森病等）的易感性方面与西方人的差异。
Polymorphisms of exon 1 and exon 9 of CYP2D6 gene in 83 normal Chinese were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The results showed that the frequency of C → T at position 188 of CYP2D6 was 0.59, the frequency of G → C at position 4268 was 0.66, and the ratios of homozygous T188 / T188 and homozygous C4268 / C4268 0.38 and 0.34. Compared with foreign reports, it was found that the distribution of CYP2D6 gene polymorphism in these two loci was significantly different from that of western people. This may help to explain the difference between Westerners and Chinese in drug metabolism and the susceptibility of certain diseases such as Parkinson’s disease.