[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].
| Autoři: | Mitrofanov DV, Chasovnikova OB, Koroleva LS, Sil'nikov VN, Zhdanov LG, Kovalenko SP |
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| Zdroj: | Genetika [Genetika] 2008 Dec; Vol. 44 (12), pp. 1684-92. |
| Způsob vydávání: | Journal Article; Research Support, Non-U.S. Gov't |
| Jazyk: | Russian |
| Informace o časopise: | Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0047354 Publication Model: Print Cited Medium: Print ISSN: 0016-6758 (Print) Linking ISSN: 00166758 NLM ISO Abbreviation: Genetika Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Moskva : Izdatelstvo Nauka |
| Výrazy ze slovníku MeSH: | Alleles* , Point Mutation*, DNA Primers/*genetics , Dihydrouracil Dehydrogenase (NADP)/*genetics , RNA Splice Sites/*genetics, DNA Primers/chemistry ; Female ; Fluorescent Dyes/chemistry ; Genetic Carrier Screening/methods ; Heterozygote ; Humans ; Male ; Polymerase Chain Reaction ; Siberia |
| Abstrakt: | 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. |
| Substance Nomenclature: | 0 (DNA Primers) 0 (Fluorescent Dyes) 0 (RNA Splice Sites) EC 1.3.1.2 (Dihydrouracil Dehydrogenase (NADP)) |
| Entry Date(s): | Date Created: 20090131 Date Completed: 20090217 Latest Revision: 20171116 |
| Update Code: | 20231215 |
| PMID: | 19178088 |
| Autor: | Mitrofanov DV, Chasovnikova OB, Koroleva LS, Sil'nikov VN, Zhdanov LG, Kovalenko SP |
| Jazyk: | ruština |
| Zdroj: | Genetika [Genetika] 2008 Dec; Vol. 44 (12), pp. 1684-92. |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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