[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]

Genetika. 2008 Dec;44(12):1684-92.
[Article in Russian]

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • DNA Primers / chemistry
  • DNA Primers / genetics*
  • Dihydrouracil Dehydrogenase (NADP) / genetics*
  • Female
  • Fluorescent Dyes / chemistry
  • Genetic Carrier Screening / methods
  • Heterozygote
  • Humans
  • Male
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA Splice Sites / genetics*
  • Siberia

Substances

  • DNA Primers
  • Fluorescent Dyes
  • RNA Splice Sites
  • Dihydrouracil Dehydrogenase (NADP)