РАЗРАБОТК А СИСТЕМЫ АС-ПЦР ДЛЯ ВЫЯВЛЕНИЯ ПОЛИМОРФИЗМА RS4149056 В ГЕНЕ SLCO1B1, АССОЦИИРОВАННОГО С СЕРДЕЧНО -СОСУДИСТЫМИ ЗАБОЛЕВАНИЯМИ В УЗБЕКСКОЙ ПОПУЛЯЦИИ

The study describes development of rapid and economically efficient PCR test to identify rs4149056 polymorphism in SLCO 1B1 gene. The effectiveness of the test was evaluated on DNA samples isolated from 247 simvastatin intolerant patients and 34 controls. Bioinformatic software for designing of specific primers and in silico PCR simulation and standard molecular genetic methods were used for genotype identification and AS-PCR test specificity. As a result, a single tube multiplex allele specific PCR was developed for rapid identification of 521T>C polymorphism in SLCO 1B1 gene. Polymorphic genotypes easily visualized as 260 bp, 179 bp, and 123 bp bands in gel electrophoresis. The СС genotype produce fragments of 260bp and 123 bp, ТТ – 260 bp and 179 bp, СТ – 260 bp, 179 bp, and 123 bp. The developed AS-PCR test is suitable for use in minimally equipped diagnostic and research laboratories. This approach can also be used to develop a multiplex AS-PCR tests for detecting SNPs in other genes associated with CVD and other diseases.