The aim of the study was to develop rapid and economical method for detection genetic diseases using PCR technology. 20 samples of buccal swabs were collected and screened for the presence of Factor V Leiden and Prothrombin 2020A mutations, which are known to be common risk alleles for venous thrombosis. We have derived conditions that enable specific and reproducible amplification of segments of Factor V and prothrombin genes directly from oral mucosa epithelial cells without previous DNA extraction as well as subsequent restriction digestion. 1 sample was found to be heterozygous for the presence of FV Leiden mutation. Our results demonstrates that use of direct PCR of oral mucosa epithelial cells offers significant advantages over the other screening methods, including both non-invasive sampling and reduction of time needed, therefore increasing the number of samples that could be handled conveniently.
TY - JOUR
AU - Čakić, Saša
AU - Rakićević, Ljiljana
AU - Radojković, Dragica
PY - 2001
UR - https://smile.stomf.bg.ac.rs/handle/123456789/1115
AB - The aim of the study was to develop rapid and economical method for detection genetic diseases using PCR technology. 20 samples of buccal swabs were collected and screened for the presence of Factor V Leiden and Prothrombin 2020A mutations, which are known to be common risk alleles for venous thrombosis. We have derived conditions that enable specific and reproducible amplification of segments of Factor V and prothrombin genes directly from oral mucosa epithelial cells without previous DNA extraction as well as subsequent restriction digestion. 1 sample was found to be heterozygous for the presence of FV Leiden mutation. Our results demonstrates that use of direct PCR of oral mucosa epithelial cells offers significant advantages over the other screening methods, including both non-invasive sampling and reduction of time needed, therefore increasing the number of samples that could be handled conveniently.
PB - Udruženje stomatologa Balkana
T2 - Balkan Journal of Stomatology
T1 - Direct DNA amplification by PCR from oral mucosa epithelial cells
VL - 5
IS - 3
SP - 162
EP - 164
UR - https://hdl.handle.net/21.15107/rcub_smile_1115
ER -
@article{
author = "Čakić, Saša and Rakićević, Ljiljana and Radojković, Dragica",
year = "2001",
abstract = "The aim of the study was to develop rapid and economical method for detection genetic diseases using PCR technology. 20 samples of buccal swabs were collected and screened for the presence of Factor V Leiden and Prothrombin 2020A mutations, which are known to be common risk alleles for venous thrombosis. We have derived conditions that enable specific and reproducible amplification of segments of Factor V and prothrombin genes directly from oral mucosa epithelial cells without previous DNA extraction as well as subsequent restriction digestion. 1 sample was found to be heterozygous for the presence of FV Leiden mutation. Our results demonstrates that use of direct PCR of oral mucosa epithelial cells offers significant advantages over the other screening methods, including both non-invasive sampling and reduction of time needed, therefore increasing the number of samples that could be handled conveniently.",
publisher = "Udruženje stomatologa Balkana",
journal = "Balkan Journal of Stomatology",
title = "Direct DNA amplification by PCR from oral mucosa epithelial cells",
volume = "5",
number = "3",
pages = "162-164",
url = "https://hdl.handle.net/21.15107/rcub_smile_1115"
}
Čakić, S., Rakićević, L.,& Radojković, D.. (2001). Direct DNA amplification by PCR from oral mucosa epithelial cells. in Balkan Journal of Stomatology
Udruženje stomatologa Balkana., 5(3), 162-164.
https://hdl.handle.net/21.15107/rcub_smile_1115
Čakić S, Rakićević L, Radojković D. Direct DNA amplification by PCR from oral mucosa epithelial cells. in Balkan Journal of Stomatology. 2001;5(3):162-164.
https://hdl.handle.net/21.15107/rcub_smile_1115 .
Čakić, Saša, Rakićević, Ljiljana, Radojković, Dragica, "Direct DNA amplification by PCR from oral mucosa epithelial cells" in Balkan Journal of Stomatology, 5, no. 3 (2001):162-164,
https://hdl.handle.net/21.15107/rcub_smile_1115 .
