Publications by authors named "Toinette Hartshorne"
TaqMan™ genotyping assays are widely used to genotype CYP2D6, which encodes a major drug metabolizing enzyme. Assay design for CYP2D6 can be challenging owing to the presence of two pseudogenes, CYP2D7 and CYP2D8, structural and copy number variation and numerous single nucleotide polymorphisms (SNPs) some of which reflect the wild-type sequence of the CYP2D7 pseudogene. The aim of this study was to identify the mechanism causing false-positive CYP2D6 (*) 15 calls and remediate those by redesigning and validating alternative TaqMan genotype assays.
View Article and Find Full Text PDFCYP2D6 contributes to the metabolism of many clinically used drugs and is increasingly tested to individualize drug therapy. The CYP2D6 gene is challenging to genotype due to the highly complex nature of its gene locus. TaqMan technology is widely used in the clinical and research settings for genotype analysis due to assay reliability, low cost, and the availability of commercially available assays.
View Article and Find Full Text PDFPolymorphisms associated with genes that code for various drug-metabolizing enzymes (DMEs) and associated transport proteins can influence the rate of drug metabolism within individuals, thus potentially affecting drug efficacy and the occurrence of side effects. There are 2,700 unique TaqMan(®) Drug Metabolism Genotyping Assays (Life Technologies) for detecting single nucleotide polymorphisms (SNPs), insertions and deletions (indels), and multinucleotide polymorphisms (MNPs) in both coding and regulatory regions. These research assays are useful tools for better understanding genetic variation in drug metabolism.
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- The study investigates the relationship between the GSTM1 gene copy number variation (CNV), smoking, and the risk of developing rheumatoid arthritis (RA), which is influenced by genetic and environmental factors.
- Using qPCR, researchers analyzed data from over 3,600 individuals and found no overall link between GSTM1 CNV and RA, but identified a significant risk for autoantibody positive RA in non-smoking females over 60 with at least one GSTM1 copy.
- The results suggest that while GSTM1 variation may impact RA risk in specific populations, it doesn't broadly modify how smoking affects RA risk.
Article Synopsis
- Copy number variations (CNVs) are significant genetic differences that can affect gene expression levels, potentially leading to higher or lower transcription compared to single gene copies.
- CNVs have been linked to various genetic diseases, including cancers, immune disorders, and neurological conditions.
- TaqMan copy number assays utilize real-time polymerase chain reaction (PCR) and fluorescent probes to detect and quantify these variations in the human genome.