CAJ | 학술논문

目的：探讨尿苷二磷酸葡萄糖醛酰转移酶（UGT）1A6基因多态性对癫痫患者丙戊酸血药浓度的影响。方法：对40例癫痫患者应用限制性酶切片段多态性技术分析中国汉族人常见的UGT1A6552A＞C等位基因变异，应用荧光偏振免疫法测定患者丙戊酸的血药浓度，在进行标准化以排除剂量和体重对血药浓度的影响后，分析不同UGT1A6基因型患者丙戊酸血药浓度的差异。结果：UGT1A6552A＞C等位基因频率为0.2625，符合Hardy-Weinberg平衡。将患者分为 AA野生纯合子型慢代谢组和AC合并AA突变型快代谢组，慢代谢组的丙戊酸标准化血药浓度显著高于快代谢组（P＜0.01）。结论：UGT1A6552A＞C基因多态性与丙戊酸的血药浓度有相关性，该位点突变可导致丙戊酸血药浓度降低。
목적：탐토뇨감이린산포도당철선전이매（UGT）1A6기인다태성대전간환자병무산혈약농도적영향。방법：대40례전간환자응용한제성매절편단다태성기술분석중국한족인상견적UGT1A6552A＞C등위기인변이，응용형광편진면역법측정환자병무산적혈약농도，재진행표준화이배제제량화체중대혈약농도적영향후，분석불동UGT1A6기인형환자병무산혈약농도적차이。결과：UGT1A6552A＞C등위기인빈솔위0.2625，부합Hardy-Weinberg평형。장환자분위 AA야생순합자형만대사조화AC합병AA돌변형쾌대사조，만대사조적병무산표준화혈약농도현저고우쾌대사조（P＜0.01）。결론：UGT1A6552A＞C기인다태성여병무산적혈약농도유상관성，해위점돌변가도치병무산혈약농도강저。
To investigate the relationship between the genetic polymorphism of UGT1A6 and the serum concentration of valproate (VPA) in patients with epilepsy. Methods: The peripheral blood sam-ples of 40 patients with epilepsy were collected to undergo PCR. A PCR-RFLP method was used to exam-ine the UGT1A6 552A>C allele. Fluorescence polarization immunoassay was used to measure the VPA serum concentration standardized by dosage and body weight. Results: The allele frequency of UGT1A6 was 0.2625 which fitted the Hardy-weinberg equilibrium. Forty patients were classified into 2 groups: ex-tensive metabolizers (EM) with the genotype of AC or CC alleles, and poor metabolizer (PM) with the ho-mozygous genotype of AA. The VPA serum concentration of the PM group was significantly higher than that of the EM group (P<0.01). Conclusion: The VPA serum concentration was affected by UGT1A6 552A>C. The VPA serum concentration of the PM is significantly higher.