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The Hybrid Experience A Retrospective Review of ‘N ...
The Hybrid Experience A Retrospective Review of ‘Novel’ CYP2D6CYP2D7 Alleles
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A retrospective review conducted by Mayo Clinic examined novel CYP2D6 hybrid alleles, which result from genetic rearrangement events involving the CYP2D6, CYP2D7, and CYP2D8 genes on chromosome 22. The study focused on identifying and describing these novel alleles, which present challenges in genotype characterization due to their unique features such as atypical switch regions and uncertain functional impacts. The hybrids are classified into two types: CYP2D7::CYP2D6, marked as nonfunctional *13 alleles, and CYP2D6::CYP2D7, with variable functional effects. The study analyzed 28 samples with novel hybrid alleles and 3 samples with multi-exonic conversions, utilizing methods like copy number analysis, targeted genotyping, and LR-PCR sequencing. The ambiguous nomenclature of these rare hybrid alleles poses challenges in reporting accurate genotypes and predicted phenotypes. To improve consistency in reporting, the study suggests submission to PharmVar for guidance. The research highlights the need for clearer guidelines on how to classify these unique hybrid alleles to enhance understanding of their functional significance in clinical practice.
Keywords
Mayo Clinic
CYP2D6 hybrid alleles
genetic rearrangement events
chromosome 22
novel alleles
genotype characterization
CYP2D7::CYP2D6
CYP2D6::CYP2D7
copy number analysis
PharmVar
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