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Curating the Clinical Genome 2024 ePoster Gallery
A CYP2B6 Novel Allele: Expanding Genotypic Diversi ...
A CYP2B6 Novel Allele: Expanding Genotypic Diversity
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Pdf Summary
A new CYP2B6 allele containing three variants has been identified, potentially impacting drug metabolism. The allele may be associated with a *30 hybrid allele but would not change the phenotype. Understanding CYP2B6 variations is essential for personalized drug treatments. The enzyme plays a crucial role in metabolizing various drugs, such as ketamine and bupropion. Individuals with impaired function alleles like *6 may metabolize drugs slowly, leading to adverse effects and necessitating monitoring or alternative medications. Genotyping was done using advanced techniques, confirming a novel allele in a 19-year-old female patient, resulting in a 'poor metabolizer' phenotype. The study highlights the need for better characterization of CYP2B6 alleles to enhance diagnostic accuracy and personalized medicine strategies.
Keywords
CYP2B6
allele
drug metabolism
personalized drug treatments
ketamine
bupropion
impaired function alleles
genotyping
poor metabolizer
personalized medicine strategies
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