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

ABSTRACT: To ensure accuracy of UGT1A1 (TA)_n (rs3064744) genotyping for use in pharmacogenomics-based irinotecan dosing, we tested the concordance of several commonly used genotyping technologies. Heuristic genotype groupings and principal component analysis demonstrated concordance for Illumina sequencing, fragment analysis, and fluorescent PCR. However, Illumina sequencing and fragment analysis returned a range of fragment sizes, likely arising due to PCR "slippage". Direct sequencing was accurate, but this method led to ambiguous electrophoregrams, hampering interpretation of heterozygotes. Gel sizing, pyrosequencing, and array-based technologies were less concordant. Pharmacoscan genotyping was concordant, but it does not ascertain (TA)₈ genotypes that are com

SUBMITTER: Sissung TM 

PROVIDER: S-EPMC7037496 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature