ABAT基因多态性对癫痫患儿丙戊酸钠血药浓度的影响

发布时间：2018-04-28 03:05

本文选题：癫痫 + 丙戊酸钠　；参考：《山东医药》2017年34期

【摘要】：目的观察ABAT基因多态性对癫痫患儿丙戊酸钠血药浓度的影响。方法收集癫痫患儿80例,单用丙戊酸钠10~30 mg/kg治疗5个半衰期(约100 h)后达到稳态;取外周静脉血,采用荧光偏振免疫法测定丙戊酸钠血药浓度,用聚合酶链式反应-限制性片段长度多态性计数分析ABAT(rs1731017、rs1641022)基因多态性,比较不同基因型对丙戊酸钠血药浓度的影响,用多元线性回归分析影响丙戊酸钠血药浓度的因素。结果 80例患者中,ABAT rs1731017位点AA、GG、GA基因型分别为23、23、34例,ABAT rs1641022位点CC、AA、CA基因型分别为11、27、42例。血药浓度为(48.15±20.99)μg/m L,其中ABAT rs1731017位点AA基因型为(36.41±20.12)μg/m L,低于GG基因型患儿的(53.26±22.99)μg/m L(P0.05),ABAT rs1641022各基因型患儿血药浓度均无统计学意义(P均0.05)。多元线性回归分析显示,患儿体质量及ABAT rs1731017A/G多态性是影响丙戊酸钠血药浓度的独立因素。结论 ABAT rs1731017基因多态性对丙戊酸钠的血药浓度存在影响,对AA基因型癫痫患儿可适当增加药物的剂量。
[Abstract]:Objective to observe the effect of ABAT gene polymorphism on serum concentration of sodium valproate in epileptic children. Methods 80 children with epilepsy were treated with sodium valproate for 30 mg/kg and reached stable state after 5 half-lives (about 100h), peripheral venous blood was collected and the concentration of sodium valproate in blood was measured by fluorescence polarization immunoassay. The polymorphism of ABATT rs1731017 rs1641022) gene was analyzed by polymerase chain reaction-restriction fragment length polymorphism (RFLP). The effects of different genotypes on serum concentration of sodium valproate were compared, and the factors influencing plasma concentration of sodium valproate were analyzed by multivariate linear regression analysis. Results in 80 patients, the genetic genotype of ABAT rs1731017 was 232334, and the genotype of ABAT rs1641022 was 112742. The serum drug concentration was 48.15 卤20.99 渭 g / mL, and the AA genotype at ABAT rs1731017 locus was 36.41 卤20.12 渭 g / mL, which was lower than that of GG genotype group (53.26 卤22.99) 渭 g / m ~ (-1) P ~ (0.05) 渭 g / m ~ (-1) rs1641022 (P < 0.05). Multiple linear regression analysis showed that body mass and ABAT rs1731017A/G polymorphism were independent factors affecting serum concentration of sodium valproate. Conclusion the polymorphism of ABAT rs1731017 gene has an effect on the serum concentration of sodium valproate, and it can increase the dosage of drug in AA genotype epileptic children.
【作者单位】：遵义医学院附属医院;
【分类号】：R742.1

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