Tuychibaeva NM, Rakhimbaeva GS and Porsokhonova KE
Tashkent Medical Academy, Uzbekistan
Posters & Accepted Abstracts: J Neurol Neurosci
The sample of patients for pharmacogenetic analysis was 88 patients with a pharmacoresistant course of epilepsy (the presence of epileptic seizures that had not been recovered in patients for more than 12 months). The diagnosis of epilepsy was established after clinical-neurological, electrographic and neurovisualizational methods of investigation. Comparative aspect was performed in 68 patients with favorable epilepsy and in 60 healthy donors of Uzbek nationality. At the beginning of the work, we were able to select and optimize the work of oligo primer systems for the study of polymorphisms and predictive efficacy of the 1236 T/C and 13435 T/C of the MDR gene. For polymorphism 1236 T/C of the MDR gene, sensitivity and specificity showed average values and corresponded to SE=0.66 and SP=0.53. At the same time, the calculated AUC (0.60) also shows the average level of effectiveness according to the classifier of this marker as an independent candidate gene. Because of high frequency of the 13435 T/C polymor-phism of the MDR1 gene, its prognostic value also turned out to be high (SP=0.81) and an aver-age sensitivity level with the SE index of 0.6, compared to all other loci (in which these values deviated significantly in the direction of specificity), one can speak of a good independent effect of this on the risk of developing pharmacoresistance in the Uzbek population AUC=0.70. Evalu-ation of the efficiency of genetic markers 430C>T gene also proved to be very low. These data forces us to conclude that these polymorphisms are an ineffective classifier for marking a resistant form of epilepsy. Thus, of all the candidate genes we studied, only the polymorphisms 1236 and 13435 of the MDR1 gene are effective classifiers for predicting the development of pharmacoresistance.
Tuychibaeva NM is an Assistant Professor, Neurologist at Tashkent Medical Academy, depart-ment of Neurology and Intermed Clinic City Child Diagnostics Center respectively. She has completed her Bachelor’s degree (1990-1996) and Clinical Fellowship in Adult Neurology (1996-1999) at Tashkent Medical Academy, Uzbekistan. She obtained her PhD in Medicine (March 29, 2007) on Clinical features of Consequence of light cerebral trauma from Second Tashkent State Medical Institute. She has done training courses on epilepsy, pediatric related topics. The main fields of her clinical researches are neurology and medical genetics. She has an expertise in epilepsy, but now she is also interested in different movement disorders, especially in childhood
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