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首页> 外文期刊>Balkan journal of medical genetics: BJMG >RLIP76 GENE VARIANTS ARE NOT ASSOCIATED WITH DRUG RESPONSE IN TURKISH EPILEPSY PATIENTS
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RLIP76 GENE VARIANTS ARE NOT ASSOCIATED WITH DRUG RESPONSE IN TURKISH EPILEPSY PATIENTS

机译：RLIP76基因变异与土耳其癫痫患者的药物反应无关

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摘要

Approximately 30% of epileptic patients remain untreated, in spite of trials with maximum tolerable doses of more than one drug. The RalA binding protein 1 (RALBP1/RLIP76), a multifunctional, anti-apoptot-ic, multidrug transporter protein, has been proposed as being responsible for the drug resistance mechanism in epilepsy. We have investigated polymorphic differences in the coding regions and exon-intron boundaries of the RLIP76 gene, between 146 refractory and 155 non refractory epileptic patients in Turkey, using denaturing high performance liquid chromatography (HPLC) and sequencing analysis techniques. We have detected the following sequence variants: c.160-4G>A, C.187OG, c.1562-38G>A, c.1670+107G>A, c.1670+93G>A, c.1670+96G>A, C.1670+100OT, C.1670+130OT, c. 1670+131G>C, c.1670+140 G>C, and found no statistically significant correlation between allele frequencies and drug response status. We conclude that sequence variants of this gene are not involved in drug resistance in epilepsy.
机译：尽管有最大耐受剂量的一种以上药物的试验，约有30％的癫痫患者仍未得到治疗。 RalA结合蛋白1（RALBP1 / RLIP76）是一种多功能，抗凋亡的多药转运蛋白，已被认为是引起癫痫病耐药机制的原因。我们使用变性高效液相色谱（HPLC）和测序分析技术，研究了土耳其146名难治性和155名非难治性癫痫患者的RLIP76基因编码区和外显子-内含子边界的多态性差异。我们检测到以下序列变体：c.160-4G> A，C.187OG，c.1562-38G> A，c.1670 + 107G> A，c.1670 + 93G> A，c.1670 + 96G> A，C.1670 + 100OT，C.1670 + 130OT，c。 1670 + 131G> C，c.1670 + 140 G> C，并且发现等位基因频率与药物反应状态之间无统计学显着相关性。我们得出结论，该基因的序列变体不参与癫痫的耐药性。

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