Comparison of Eight Technologies to Determine Genotype at the UGT1A1 (TA) n Repeat Polymorphism: Potential Clinical Consequences of Genotyping Errors?

摘要: To ensure accuracy of UGT1A1 (TA)n (rs3064744) genotyping for use in pharmacogenomics-based irinotecan dosing, we tested the concordance several commonly used technologies. Heuristic genotype groupings and principal component analysis demonstrated Illumina sequencing, fragment analysis, fluorescent PCR. However, sequencing returned a range sizes, likely arising due to PCR "slippage". Direct was accurate, but this method led ambiguous electrophoregrams, hampering interpretation heterozygotes. Gel sizing, pyrosequencing, array-based technologies were less concordant. Pharmacoscan concordant, it does not ascertain (TA)8 genotypes that are common African populations. Method-based differences also observed publication record (p < 0.0046), although direct concordant = 0.11). Genotyping errors can have significant consequences clinical setting. At present time, recommend all allele be conducted with (fPCR).