CAJ | 학술논문

目的研究细胞色素P4503A4(CYP3A4)基因中3个下调CYP3A4酶活力的多态性位点的分布特点,探讨CYP3A4基因多态性与中国南方汉族人群的癫痫耐药之间的关系.方法应用聚合酶链-限制性片段长度多态性(PCR-RFLP)法检测CYP3A4*4、CYP3A4*5和CYP3A4*6 3个多态性位点在112例耐药性癫痫患者(耐药组)和136例健康人(健康组)中的分布,分析两组之间CYP3A4基因型的差异.结果所有受检者的CYP3A4*4和CYP3A4*6基因型均为野生型.而健康组中CYP3A4*5的基因型均为野生型,耐药组中则有4例为杂合子基因型,108例为野生型.两组的差异有统计学意义[136:0比108:4,OR(95%CI)=1.037(1.001～1.075),P=0.040].结论 CYP3A4*5的多态性位点可能和癫痫耐药性有关.
목적 연구세포색소P4503A4(CYP3A4)기인중3개하조CYP3A4매활력적다태성위점적분포특점,탐토CYP3A4기인다태성여중국남방한족인군적전간내약지간적관계.방법 응용취합매련-한제성편단장도다태성(PCR-RFLP)법검측CYP3A4*4、CYP3A4*5화CYP3A4*6 3개다태성위점재112례내약성전간환자(내약조)화136례건강인(건강조)중적분포,분석량조지간CYP3A4기인형적차이.결과 소유수검자적CYP3A4*4화CYP3A4*6기인형균위야생형.이건강조중CYP3A4*5적기인형균위야생형,내약조중칙유4례위잡합자기인형,108례위야생형.량조적차이유통계학의의[136:0비108:4,OR(95%CI)=1.037(1.001～1.075),P=0.040].결론 CYP3A4*5적다태성위점가능화전간내약성유관.
Objective To investigate the distribution of single nucleotide polymorphisms (SNPs) in three down - regulated CYP3A4 enzymes of cytochrome P4503A4 (CYP3A4) , and to explore their association with drug-resistant epilepsy in Southern Han Chinese. Methods Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) method was used to detect the distribution of three SNPs (CYP3A4*4, CYP3A4*5 and CYP3A4*6) in 112 drug-resistant epilepsy cases (resistance group), and in 136 healthy people(control group). The difference in CYP3A4 genotype between two groups was analyzed.Results CYP3A4*4 and CYP3A4*6 were wildtype genotypes in all the cases and healthy people. CYP3A4*5 was a wild-type genotype in all the control people and 108 resistance group cases, except that 4 cases in the resistant group appeared to have heterozygotic CYP3A4*5. Difference between two groups was significant [136:0 vs 108: 4, OR(95%CI)=1.037(1.001-1.075), P=0.040]. Conclusion CYP3A4*5 polymorphism may be associated to drug-resistance in epilepsy.