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

Frequency of the 735G → A mutation of the 5′-splice donor site of intron 14 of the... 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 end-point 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

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

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Publisher
SP MAIK Nauka/Interperiodica
Copyright
Copyright © 2008 by MAIK Nauka
Subject
Biomedicine; Microbial Genetics and Genomics; Animal Genetics and Genomics; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795408120119
Publisher site
See Article on Publisher Site

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 end-point 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.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Dec 9, 2008

References

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