Abstract
Objectives: The UGT1A1 promoter contains a (TA)n repeat polymorphism. The 7 repeat allele is associated with decreased enzyme activity and patients homozygous for this allele treated with irinotecan may experience life-threatening toxicity. Here, we have compared three methods [DNA sequencing, fragment analysis, and the Invader® assay (Third Wave Technologies)] for genotyping this polymorphism. Results: All of the DNA samples (n = 119) had concordant genotype calls between the sequencing and size-based methods. The Invader® method was also concordant if the genotypes were 6/6, 6/7, or 7/7. Both the size-based method and the Invader® method had straightforward data analysis, while interpretation of the sequencing results was occasionally more challenging. The Invader® method required more concentrated DNA for analysis, was more expensive, and had a limited genotyping spectrum. Conclusion: All three methods were valuable for genotyping the UGT1A1 (TA)n repeat, with the sequencing and size-based assays having the fewest drawbacks.
Original language | English (US) |
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Pages (from-to) | 710-717 |
Number of pages | 8 |
Journal | Clinical Biochemistry |
Volume | 40 |
Issue number | 9-10 |
DOIs | |
State | Published - Jun 2007 |
Keywords
- Capillary electrophoresis
- Fragment analysis
- Genotyping
- Irinotecan
- Sequencing
- TATA box
- UGT1A1
ASJC Scopus subject areas
- Clinical Biochemistry