论文部分内容阅读
目的探讨机体的第Ｉ相解毒系统障碍与帕金森病（ＰＤ）遗传易患性的关系。方法选择ＰＤ病人１００例和正常人１００名，利用ＸｂａＩ限制性片段长度多态性（ＲＦＬＰ）和ＰＣＲＲＦＬＰ技术，检测细胞色素Ｐ４５０２Ｄ６（ＣＹＰ２Ｄ６）基因的突变。比较ＰＤ病人与正常人之间多态性频率的差异。结果ＸｂａＩＲＦＬＰ分析可见ＰＤ病人组４４ｋｂ等位基因频率，以及４４ｋｂ／４４ｋｂ纯合子的频率高于正常对照组，而且在病人组Ａ、Ｂ、Ｃ１８８→Ｔ、Ｃ４２６８→Ｃ、Ｃ２９３８→Ｔ点突变频率也高于正常对照组，使患ＰＤ的危险性提高，危险度达２０倍左右。结论解毒酶ＣＹＰ２Ｄ６基因突变增加患ＰＤ的危险性。这提示解毒酶缺陷可能是ＰＤ遗传易患性的重要原因。
Objective To investigate the relationship between the first phase detoxification system and the genetic predisposition to Parkinson’s disease (PD). Methods 100 PD patients and 100 healthy individuals were selected. The mutations of cytochrome P4502D6 (CYP2D6) gene were detected by restriction fragment length polymorphism (RFLP) and PCRRFLP. Comparison of PD patients and normal differences in the frequency of polymorphisms. Results XbaIRFLP analysis showed that the frequency of 44kb allele and the frequency of 44kb / 44kb homozygote in PD patients were higher than those in normal controls, and the frequency of mutation in patients A, B, C188 → T, C4268 → C and C2938 → T Higher than the normal control group, so that the risk of PD increased, the risk of 2 0 times. Conclusion The risk of PD increased with the mutation of detoxification enzyme CYP2D6 gene. This suggests that detoxification enzyme defects may be an important cause of PD genetic predisposition.