Development of a PCR-based technique for genotyping UGT1A1 gene and distribution of rs3064744 alleles in the Russian population.

A novel PCR-based method using a 1D-CNN ensemble achieves 100% accuracy in genotyping UGT1A1 rs3064744 alleles, overcoming platform variability in the Russian population.

• Why it matters: Accurate genotyping of UGT1A1 is crucial for diagnosing Gilbert's syndrome and personalizing treatment with drugs like irinotecan, but existing methods struggle with highly homologous alleles and platform differences.
• What they did: Researchers developed an optimized aPCR-MCA technique combined with a dual-head 1D-CNN model trained on plasmid samples and validated on clinical specimens, then applied it to 997 population samples from four Russian regions.
• The result: The approach reliably distinguished alleles despite Tm overlaps and platform shifts, revealing population distributions similar to Europeans and detecting rare alleles, enabling high-throughput clinical testing.