In silica analysis by Bioinformatics tools, Genotyping AND Linkage Disequilibrium of UGT1A6 Gene Polymorphism in Pediatric Epileptics and it’s influence on Sodium valproate Monotherapy

ABSTRACT: Introduction: Objective of the observational cohort study was to evaluate UGT1A6 gene polymorphisms and their association with sodium valproate monotherapy. The extent of linkage disequilibrium in pairwise combinations of single nucleotide polymorphisms (SNPs) were also calculated. Selection of the SNPs was carried out using bioinformatics tools. Methodology: Children aged 2-18 years diagnosed with epilepsy and treated with sodium valproate monotherapy were recruited. Five ml of venous blood sample was collected. EDTA samples were used to evaluate the gene polymorphism using PCR-RFLP method and serum sample used to estimate the serum drug concentration by HPLC. Linkage Disequilibrium was carried out using the SHEsisplus program platform. Results: Out of 231 missense mutations, three SN

ORGANISM(S): Homo sapiens (human)

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PROVIDER: S-BSST952 | biostudies-other |

REPOSITORIES: biostudies-other