These two cases underscore the need to pair DPD phenotyping with whole DPYD gene sequencing, due to the frequent discrepancies between these pharmacogenetic tools, the burden of rare variants and ethnic differences in variant frequencies.doi:10.1007/s00280-024-04738-5Vilquin, Paul...
Because of the large number of rare variants and potentially severe toxicities, clinical laboratories may choose to conduct full gene sequencing rather than genotyping to identify variants in the DPYD gene. However, laboratories performing sequencing should be aware that the current American College of ...
Description DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include Dihydropyrimidine Dehydrogenase Deficiency and Bunion. Technical Data Gene DPYD AA Change p.S534N DNA Change NM_000110.4: c.1601G>A Chr position (GRCh38) chr1:97515865G>A Allelic Fr...
All novel SNPs were confirmed by sequencing of PCR products generated from new genomic DNA amplifica- tions. The genomic and cDNA sequences of DPYD obtained from GenBank (NT_032977.7 and NM_000110.2, respectively) were used as reference sequences. SNP positions were numbered based on the cDNA ...
*Tempus Merlin was developed and is performed by Skyline Dx as a reference laboratory xT CDx is a qualitative Next Generation Sequencing (NGS)-based in vitro diagnostic device intended for use in the detection of substitutions (single nucleotide variants (SNVs) and multi-nucleotide variants (MNVs...
PCR products were separated on 1% agarose gels, visualised with ethi- dium bromide and purified using a Qiaquick Gel Extraction kit and used for direct sequencing. Sequence analysis Sequence analysis of the genomic fragment was carried out on an Applied Biosystems model 377 automated DNA sequencer...
2.4. DNA sequencing Identification of DNA variations was achieved by sequencing the respective PCR products using an Applied Biosystem model 310 DNA sequencing system. 2.5. Statistical analysis Differences in allele frequencies between Tunisian and other ethnic populations were measured by the Fisher exact...
Namely, the all-in approach revealed that DPYD is a complex gene whose expression is epigenetically regulated by long non-coding RNAs (lncRNAs) within the locus. Furthermore, the long interspersed nuclear element-1 (LINE-1) L1MC1 transposon inserted in DPYD intronic transcript 1 (DPYD-IT1) ...
Sequencing of the TYMS promoter region revealed considerable variation, with the number of repeats varying from 2 to 4. No association between repeat number and toxicity was seen in the either logistic regression model (P ¼ 0.080) or Fisher's exact www.bjcancer.com | DOI:10.1038/bjc....
We were able to identify (Figure 3) the two exon 14 skipping mutation (IVS14+1G > A) previously detected by direct sequencing analysis, but not the 1845 G > T missense mutation. The remaining 39 patients with severe toxicity to 5-FU treatment that did not carry clinically relevant allelic...