RLIP76 GENE VARIANTS ARE NOT ASSOCIATED WITH
DRUG RESPONSE IN TURKISH EPILEPSY PATIENTS
Manguoğlu E1,*, Akdeniz S1, Dündar NO2, Duman Ö2,
Aktekin B3, Haspolat Ş2, Bilge U4, Özel D4, Lüleci G1
*Corresponding Author: Esra Manguoğlu, Department of Medical Biology and Genetics, Faculty of Medicine,
Akdeniz University, Antalya, Turkey;
Tel.: +90-242-249-6977; Fax: +90-242-249-6906; E-mail: emanguoglu@akdeniz.edu.tr
page: 25
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Abstract
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-apoptotic,
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.187C>G,
c.1562-38G>A, c.1670+107G>A, c.1670+93G>A,
c.1670+96G>A, c.1670+100C>T, c.1670+130C>T,
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.
Keywords: Epilepsy; Neuropharmacology; Pharmacogenetics;
Polymorphism; RLIP76 gene
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