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目的:检测尿苷二磷酸葡萄糖醛酸基转移酶(UGT)1A6 A541G基因多态性在黑龙江汉族癫痫患者中的分布频率,探讨UGT1A6基因多态性对丙戊酸血药浓度的影响。方法:应用荧光偏振免疫法(FPIA)测定患者丙戊酸钠的血药浓度,PCRRFLP技术检测患者UGT1A6 541位点的基因多态性,PCR扩增产物进行测序验证方法的可靠性。结果:97例汉族癫痫患者中有28名(28.9%)携带突变型UGT1A6基因,其中服用单位剂量(mg·kg~(-1))引起的血药浓度AA基因型患者为(3.06±0.80)μg·ml~(-1),AG基因型患者为(2.21±0.66)μg·ml~(-1),两者差异有统计学意义(P<0.05)。结论:UGT1 A6基因多态性对丙戊酸血药浓度有影响,临床上对于含突变型UGT1A6基因的患者服用丙戊酸时应较常规减少用药减量。
Objective: To detect the distribution of uridine diphosphate glucuronyl transferase (UGT) 1A6 A541G polymorphism in patients with epilepsy in Han nationality in Heilongjiang Province and to explore the effect of UGT1A6 gene polymorphism on plasma concentration of valproic acid. Methods: The plasma concentration of sodium valproate was determined by fluorescence polarization immunoassay (FPIA). The polymorphism of UGT1A6 541 locus was detected by PCR-RFLP. The reliability of PCR amplification products was verified by sequencing. Results: A total of 28 (28.9%) patients with genotypes of UGT1A6 in 97 epilepsy Han Chinese patients were genotyped with genotype AA (3.06 ± 0.80), which was caused by taking unit dose (mg · kg -1) (2.21 ± 0.66) μg · ml -1 in patients with AG genotype, the difference was statistically significant (P <0.05). CONCLUSION: The polymorphism of UGT1 A6 gene has an impact on plasma concentration of valproic acid. Clinically, patients taking mutated UGT1A6 gene should be treated with valproic acid to reduce dosage regimen.