title: [Frequency of the 735G --> A mutation of the 5'-splice donor site of intron 14 of the dihydropyrimidine dehydrogenase gene (DPYD) in residents of Novosibirsk region (Russia) as revealed with fluorescent oligonucleotides].
abstract: A simple method was developed for end-point fluorescence detection of the 735G --> A mutation of the 5'-splice donor site of intron 14 of the dihidropyrimidine dehydrogenase gene (DPYD). The method was based on allele-specific PCR with duplex Scorpion primers. The genotyping results obtained by the fluorescent endpoint PCR technique completely coincided with the results obtained by allele-specific PCR with amplicon detection in agarose gel. Genotyping was performed in 291 DNA samples from residents of Novosibirsk region (Russia), and two heterozygotes (0.69%) were detected.
authors.forename: D V
authors.initials: DV
authors.lastname: Mitrofanov
authors.forename: O B
authors.initials: OB
authors.lastname: Chasovnikova
authors.forename: L S
authors.initials: LS
authors.lastname: Koroleva
authors.forename: V N
authors.initials: VN
authors.lastname: Sil'nikov
authors.forename: L G
authors.initials: LG
authors.lastname: Zhdanov
authors.forename: S P
authors.initials: SP
authors.lastname: Kovalenko
mesh_terms: D000483:Alleles; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics*; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics*; D005260:Female; D005456:Fluorescent Dyes / Q000737:chemistry; D006580:Genetic Carrier Screening / Q000379:methods; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics*; D012800:Siberia
chemical_list: D017931:DNA Primers; D005456:Fluorescent Dyes; D022821:RNA Splice Sites; D042943:Dihydrouracil Dehydrogenase (NADP)