Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population
Samo za registrovane korisnike
2006
Autori
Nikolić, Aleksandra![](/themes/Mirageimagine/images/orcid.png)
Divac Rankov, Aleksandra
![](/themes/Mirageimagine/images/orcid.png)
Stanković, Marija
![](/themes/Mirageimagine/images/orcid.png)
Dinić, J.
![](/themes/Mirageimagine/images/orcid.png)
Tornić, B.
Ljujić, Mila
![](/themes/Mirageimagine/images/orcid.png)
Članak u časopisu (Objavljena verzija)
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Metapodaci
Prikaz svih podataka o dokumentuApstrakt
Three common CFTR polymorphisms, 5T, M470V, and R75Q, have been shown to be relatively frequent in Serbian patients with monosymptomatic CF disorders. Since there is a variation in distribution of common polymorphisms among different populations, it was important to compare their frequencies in patients with the frequencies in healthy population in order to assess the possible role of these polymorphisms in the monosymptomatic CF disorders. Samples obtained from 100 healthy Serbian individuals were analyzed for the presence of CFTR 5T, M470V, and R75Q variants by PSM, RFLP, and DGGE methods, respectively. Allele 5T was present in two individuals, giving the allelic frequency of 1% (2/200 alleles). The frequency obtained for allele M470 was 45% (90/200 alleles), while V470 allele was present with the frequency of 55% (110/200 alleles). Polymorphism R75Q was present in two individuals, with allelic frequency of 1% (2/200 alleles). Our study has shown that the frequencies of two common po...lymorphisms, 5T and M470V, differ significantly in Serbian population in comparison with other Southern European populations. Since it appears that Serbian population has a specific distribution of studied CFTR gene variants, it would also be interesting to analyze other common variants of this gene in our population. Such data can also be potentially useful as anthropogenic markers in population studies.
Izvor:
Russian Journal of Genetics, 2006, 42, 7, 821-823Izdavač:
- Maik Nauka/Interperiodica/Springer, New York
DOI: 10.1134/S1022795406070192
ISSN: 1022-7954
WoS: 000239431500019
Scopus: 2-s2.0-33748331381
Institucija/grupa
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Nikolić, Aleksandra AU - Divac Rankov, Aleksandra AU - Stanković, Marija AU - Dinić, J. AU - Tornić, B. AU - Ljujić, Mila PY - 2006 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/240 AB - Three common CFTR polymorphisms, 5T, M470V, and R75Q, have been shown to be relatively frequent in Serbian patients with monosymptomatic CF disorders. Since there is a variation in distribution of common polymorphisms among different populations, it was important to compare their frequencies in patients with the frequencies in healthy population in order to assess the possible role of these polymorphisms in the monosymptomatic CF disorders. Samples obtained from 100 healthy Serbian individuals were analyzed for the presence of CFTR 5T, M470V, and R75Q variants by PSM, RFLP, and DGGE methods, respectively. Allele 5T was present in two individuals, giving the allelic frequency of 1% (2/200 alleles). The frequency obtained for allele M470 was 45% (90/200 alleles), while V470 allele was present with the frequency of 55% (110/200 alleles). Polymorphism R75Q was present in two individuals, with allelic frequency of 1% (2/200 alleles). Our study has shown that the frequencies of two common polymorphisms, 5T and M470V, differ significantly in Serbian population in comparison with other Southern European populations. Since it appears that Serbian population has a specific distribution of studied CFTR gene variants, it would also be interesting to analyze other common variants of this gene in our population. Such data can also be potentially useful as anthropogenic markers in population studies. PB - Maik Nauka/Interperiodica/Springer, New York T2 - Russian Journal of Genetics T1 - Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population EP - 823 IS - 7 SP - 821 VL - 42 DO - 10.1134/S1022795406070192 ER -
@article{ author = "Nikolić, Aleksandra and Divac Rankov, Aleksandra and Stanković, Marija and Dinić, J. and Tornić, B. and Ljujić, Mila", year = "2006", abstract = "Three common CFTR polymorphisms, 5T, M470V, and R75Q, have been shown to be relatively frequent in Serbian patients with monosymptomatic CF disorders. Since there is a variation in distribution of common polymorphisms among different populations, it was important to compare their frequencies in patients with the frequencies in healthy population in order to assess the possible role of these polymorphisms in the monosymptomatic CF disorders. Samples obtained from 100 healthy Serbian individuals were analyzed for the presence of CFTR 5T, M470V, and R75Q variants by PSM, RFLP, and DGGE methods, respectively. Allele 5T was present in two individuals, giving the allelic frequency of 1% (2/200 alleles). The frequency obtained for allele M470 was 45% (90/200 alleles), while V470 allele was present with the frequency of 55% (110/200 alleles). Polymorphism R75Q was present in two individuals, with allelic frequency of 1% (2/200 alleles). Our study has shown that the frequencies of two common polymorphisms, 5T and M470V, differ significantly in Serbian population in comparison with other Southern European populations. Since it appears that Serbian population has a specific distribution of studied CFTR gene variants, it would also be interesting to analyze other common variants of this gene in our population. Such data can also be potentially useful as anthropogenic markers in population studies.", publisher = "Maik Nauka/Interperiodica/Springer, New York", journal = "Russian Journal of Genetics", title = "Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population", pages = "823-821", number = "7", volume = "42", doi = "10.1134/S1022795406070192" }
Nikolić, A., Divac Rankov, A., Stanković, M., Dinić, J., Tornić, B.,& Ljujić, M.. (2006). Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population. in Russian Journal of Genetics Maik Nauka/Interperiodica/Springer, New York., 42(7), 821-823. https://doi.org/10.1134/S1022795406070192
Nikolić A, Divac Rankov A, Stanković M, Dinić J, Tornić B, Ljujić M. Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population. in Russian Journal of Genetics. 2006;42(7):821-823. doi:10.1134/S1022795406070192 .
Nikolić, Aleksandra, Divac Rankov, Aleksandra, Stanković, Marija, Dinić, J., Tornić, B., Ljujić, Mila, "Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population" in Russian Journal of Genetics, 42, no. 7 (2006):821-823, https://doi.org/10.1134/S1022795406070192 . .