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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Bashmakova E. E., Krasitskaya V. V., Yushkova A. D., Dobrecov K. G., Frank L. A.
Заглавие : To the question of genetic predisposition to the development of professional sensorineural hearing loss
Место публикации : Vestn. Otorinolaringologii: Media Sphera Publishing Group, 2021. - Vol. 86, Is. 1. - С. 15-19. - ISSN 00424668 (ISSN), DOI 10.17116/otorino20218601115
Аннотация: Objective was to study single-nucleotide polymorphisms (SNP) in CAT, NCL, HSPA1L, PCDH15, and PON2 genes and their associations with hearing impairment among the people working among noise-exposed workers of the mashine-building plant (JSC «Krasmash», Krasnoyarsk, Eastern Siberia, Russia). Materials and methods. The 443 employees of Krasmash JSC, who have been working under conditions of increased noise for at least 1 year, were surveyed and examined. A hearing study was performed by speech and tonal audiometry. Tonal audiometry was carried out in accord with according to a standard method in the frequency range 125—8000 Hz. People with chronic hearing impairment, survivors of meningitis and family history of hearing impairment were excluded from the study. The allelic composition of the studied genes was determined in the remaining group of 288 workers (study group). Polymorphisms were detected using bioluminescent method, developed by the authors earlier. The study group comprised 122 people with hearing impairment (experimental group) and 166 people without impairment (control group). Results. The genotyping results of on allelic variants rs494024 (CAT), rs7598759 (NCL), rs2227956 (HSPA1L), rs7095441 (PCDH15) and rs7785846 (PON2) showed that their frequencies in the study group did not differ and were comparable with those for the European population. No statistically significant differences were revealed in the distribution of the genotypes of the studied mutations between the experimental and control groups. Also no statistically significant associations we found between hearing impairment and availability of two or several SNPs, or these SNPs and clinical characteristics of the disease (degree of hearing impairment, tinnitus). In the group of workers with an experience of 5 to 16 years, an association was found for hearing impairment and SNP rs494024, as well as when it is combined with rs7598759. Conclusions. The associations between SNP rs7598759, rs2227956, and rs7095441 and hearing impairment were not found. In the group of workers with 5—16 year experience, this association was found for SNP rs494024, as well as when it is combined with rs7598759. Discovered associations require further study. © 2021, Media Sphera Publishing Group. All rights reserved.
Scopus
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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Bashmakova E. E., Krasitskaya V. V., Frank L. A.
Заглавие : Simultaneous genotyping of four single nucleotide polymorphisms associated with risk factors of hemostasis disorders
Место публикации : Comb. Chem. High Throughput Screen. - 2015. - Vol. 18, Is. 10. - С. 930-936. - ISSN 13862073 (ISSN)
Ключевые слова (''Своб.индексиров.''): bioluminescent microassay--multiplex pcr--pext reaction--photoprotein obelin--snp detection
Аннотация: Multiplex simultaneous genotyping technique was developed for four polymorphisms in genes coding for blood coagulation factors and homocysteine metabolism which are considered as thrombophilia related mutations: FV Leiden, FII G20210A, MTHFR C677T, and FVII G10976A. It is based on primer extension reaction with the following bioluminescent solid-phase microassay. At that, two different in bioluminescence obelin mutants were applied to simultaneous detection of two gene allelic variants. The assay is carried out in microtiter plate format and provides fast and reliable genotyping of four single nucleotide polymorphisms in four different genes within 2.5 hours. A large number of clinical samples were analyzed and the obtained results were found to be in complete correlation with those obtained by using conventional RT-PCR techniques. © 2015 Bentham Science Publishers.
Scopus
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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Bashmakova, Eugenia E., Krasitskaya, Vasilisa V., Frank, Ludmila A.
Заглавие : Simultaneous Genotyping of Four Single Nucleotide Polymorphisms Associated with Risk Factors of Hemostasis Disorders
Колич.характеристики :7 с
Коллективы : Russian Science Foundation [14-14-01119]
Место публикации : Comb. Chem. High Throughput Screen: BENTHAM SCIENCE PUBL LTD, 2015. - Vol. 18, Is. 10. - С. 930-936. - ISSN 1386-2073, DOI 10.2174/1386207318666150917095903. - ISSN 1875-5402(eISSN)
Примечания : Cited References:20. - The study was supported by the grant 14-14-01119 of the Russian Science Foundation.
Предметные рубрики: ALLELE-SPECIFIC PCR
FACTOR-V-LEIDEN
BIOLUMINESCENT IMMUNOASSAY
Ключевые слова (''Своб.индексиров.''): snp detection--pext reaction--photoprotein obelin--bioluminescent--microassay--multiplex pcr
Аннотация: Multiplex simultaneous genotyping technique was developed for four polymorphisms in genes coding for blood coagulation factors and homocysteine metabolism which are considered as thrombophilia related mutations: FV Leiden, FII G20210A, MTHFR C677T, and FVII G10976A. It is based on primer extension reaction with the following bioluminescent solid-phase microassay. At that, two different in bioluminescence obelin mutants were applied to simultaneous detection of two gene allelic variants. The assay is carried out in microtiter plate format and provides fast and reliable genotyping of four single nucleotide polymorphisms in four different genes within 2.5 hours. A large number of clinical samples were analyzed and the obtained results were found to be in complete correlation with those obtained by using conventional RT-PCR techniques.
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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Krasitskaya V.V., Burakova L.P., Frank L.A.
Заглавие : Simultaneous determination of SNP genotypes by photoprotein obelin and R. muelleri luciferase
Колич.характеристики :2 с
Место публикации : Luminescence: WILEY-BLACKWELL, 2012. - Vol. 27, Is. 2. - С. 129-130. - ISSN 1522-7235
Примечания : Cited References: 0
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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Bashmakova E. E., Krasitskaya V. V., Bondar A. A., Eremina E. N., Slepov E. V., Zukov R. A., Frank L. A.
Заглавие : Bioluminescent SNP genotyping technique: Development and application for detection of melanocortin 1 receptor gene polymorphisms
Место публикации : Talanta: Elsevier B.V., 2018. - Vol. 189. - С. 111-115. - ISSN 00399140 (ISSN) , DOI 10.1016/j.talanta.2018.06.057
Ключевые слова (''Своб.индексиров.''): ca2+-regulated photoprotein obelin--genotyping--melanocortin 1 receptor gene--single nucleotide polymorphisms (snp)--bioluminescence--clinical research--curricula--diagnosis--genes--oncology--biomedical research--clinical characteristics--development and applications--genotyping--healthy individuals--photoproteins--receptor genes--single-nucleotide polymorphisms--dermatology
Аннотация: SNP genotyping based on the reaction of specific primer extension with the following bioluminescent detection of its products was shown to be potentially applicable for biomedical exploration. The paper describes its elaboration and first application in extensive biomedical research concerning MC1R gene variants’ frequency and associations with clinical characteristics in melanoma patients of Eastern Siberia (Krasnoyarsk region, Russia). Polymorphisms rs 1805007 (R151C), rs 1805008 (R160W), and rs 1805009 (D294H) were detected in 174 DNA samples from patients with histologically proved diagnosis of cutaneous melanoma and in 200 samples from healthy individuals. All the results on bioluminescent SNP genotyping were confirmed by Sanger sequencing. Some features characteristic of the population were found, i.e. melanoma is mostly associated with R160W or R151C while variant D294H is extremely rare; simultaneous carriage of any two investigated variants is also strongly associated with melanoma; R151C is associated with ulceration and consequently the disease course is more aggressive, etc. The design of the technique allows fast evaluation of any known diagnostically important SNP frequencies and associations across population. © 2018 Elsevier B.V.
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Вид документа : Статья из журнала
Шифр издания :
Автор(ы) : Krasitskaya V.V., Burakova L.P., Pyshnaya I.A., Frank L.A.
Заглавие : Bioluminescent reporters for identification of gene allelic variants
Колич.характеристики :8 с
Место публикации : Russ. J. Bioorg. Chem.: MAIK NAUKA/INTERPERIODICA/SPRINGER, 2012. - Vol. 38, Is. 3. - С. 298-305. - ISSN 1068-1620, DOI 10.1134/S1068162012030090
Примечания : Cited References: 13. - The authors thank the staff of Hematology Research Center (Krasnoyarsk Branch of Russian Academy of Medical Sciences) for providing DNA samples. The work was supported by the Integration Interdisciplinary Project of Siberian Branch of the Russian Academy of Sciences No. 76 and the Krasno yarsk Regional Fund for the support of scientific and technological activities.
Предметные рубрики: COELENTERAZINE-BINDING PROTEIN
RENILLA-MUELLERI
LUCIFERASE
PURIFICATION
SUBSTRATE
CLONING
CDNA
Ключевые слова (''Своб.индексиров.''): snp--pext reaction--obelin--luciferase--bioluminescent microassay
Аннотация: A method for single nucleotide polymorphism identification was developed, which was based on the primer extension reaction (PEXT) followed by bioluminescent solid-phase microassay. Recombinant Ca2+-regulated photoprotein obelin and coelenterazine-dependent Renilla muelleri luciferase were used as reporters. The study was performed as an example of SNP genotyping of the human F5 gene encoding human Factor V Leiden polymorphism 1691 G - A (R506Q). Genomic DNA was amplified by PCR using primers flanking polymorphic site of 140 base pairs. PCR products were used as templates for two PEXT reactions using two primers containing 3'-terminal nucleotides, which were complementary to either normal or mutant alleles. If the template and allele-specific primer were completely complementary, the latter was elongated with DNA polymerase. The resulting extension product contained biotin residue due to the presence of biotinylated deoxyuridine triphosphate (B-dUTP) in the reaction mixture. The products were analyzed using obelin-streptavidin conjugates. The optimal PEXT-reaction conditions were found, which ensured a high reliability of SNP genotyping. A new approach to simultaneously revealing both alleles in one well was developed using two bioluminescent reporters. The efficiency of the proposed approach was shown in the study of clinical DNA samples.
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