【摘要】 目的 :探讨N 乙酰化转移酶 1(NAT1)基因多态性与肝癌遗传易感性的关系。方法 :应用PCR RFLP技术检测 96例肝癌患者和 173例对照的NAT1基因型 ,并分析NAT1与环境危险因素的交互作用。结果 :病例组等位基因NAT1 3,NAT1 4 ,NAT1 10和NAT1 14B的频率分别是 2 0 .3%、5 0 .5 %、2 4 .0 %和 5 .2 % ,基因型NAT1 3/ 3、NAT1 3/ 4、NAT1 3/ 10、NAT1 3/ 14B、NAT1 4 / 4、NAT1 4 / 10、NAT1 4 / 14B、NAT1 10 / 10和NAT1 10 / 14B的频率分别是 4 .2 %、2 5 .0 %、3.1%、4 .2 %、31.3%、10 .4 %、3.1%、14 .7和 4 .2 % ,与对照组相比差异均无统计学意义。病例组NAT1快型和慢型的频率分别是 32 .3%和 6 7.7% ,与对照组相比不存在统计学差异。NAT1 10与职业暴露存在交互作用 ,OR值为 3.4 0 (95 %CI:1.0 3～ 11.2 2 ) ,与其它环境因素不存在交互作用。结论 :NAT1基因多态性与肝癌不存在关联 ,NAT1 10与职业暴露存在交互作用更多还原

【Abstract】 Purpose:To assess the association between the genetic polymorphisms of N-acetyltransferase1 (NAT 1) and the susceptibility to primary liver cancer (PLC). Methods:The NAT1 genotypes of 96 PLC cases and 173 controls were detected with polymerase chain reaction followed by restriction fragment length polymorphism. And the interactions between NAT1 and environmental risk factors were also analyzed. Results:In PLC cases, the frequencies of NAT1 *3, NAT1 *4, NAT1 *10 and NAT1 *14B were 20.3%, 50.5%, 24.0% and 5.2%, respectively. The frequencies of NAT1 *3/ *3, NAT1 *3/ *4, NAT1 *3/ *10, NAT1 *3/ *14B, NAT1 *4/ *4, NAT1 *4/ *10, NAT1 *4/ *14B, NAT1 *10 / *10 and NAT1 *10/ *14B genotypes were 4.2%, 25.0%, 3.1%, 4.2%, 31.3%, 10.4%, 3.1%, 14.7 and 4.2%, respectively. No statistically significant difference of the frequencies was found between the two groups. In PLC cases, the frequencies of rapid type NAT1 and slow type NAT1 were 32.3% and 67.7% respectively, which had no statistically significant difference compared with the control group. The interaction between NAT1 *10 and occupational exposures was found with an odds ratio of 3.40(95%CI:1.03～11.22). Conclusions:There is no relation between genetic polymorphisms of NAT1 and PLC. NAT1 *10 interacts with occupational exposures.更多还原