Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.
Ključne reči:
molecular genetics / test / methods / genetic counselling
Izvor:
Journal of Medical Biochemistry, 2014, 33, 1, 3-7
Izdavač:
Društvo medicinskih biohemičara Srbije, Beograd i Versita
TY - JOUR
AU - Novaković, Ivana
AU - Maksimović, Nela
AU - Pavlović, Aleksandra
AU - Žarković, Milena
AU - Rovcanin, Branislav
AU - Mirković, Duško
AU - Pekmezović, Tatjana
AU - Cvetković, Dragana
PY - 2014
UR - https://farfar.pharmacy.bg.ac.rs/handle/123456789/2148
AB - Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.
PB - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2 - Journal of Medical Biochemistry
T1 - Introduction to Molecular genetic diagnostics
VL - 33
IS - 1
SP - 3
EP - 7
DO - 10.2478/jomb-2013-0039
UR - conv_2949
ER -
@article{
author = "Novaković, Ivana and Maksimović, Nela and Pavlović, Aleksandra and Žarković, Milena and Rovcanin, Branislav and Mirković, Duško and Pekmezović, Tatjana and Cvetković, Dragana",
year = "2014",
abstract = "Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Introduction to Molecular genetic diagnostics",
volume = "33",
number = "1",
pages = "3-7",
doi = "10.2478/jomb-2013-0039",
url = "conv_2949"
}
Novaković, I., Maksimović, N., Pavlović, A., Žarković, M., Rovcanin, B., Mirković, D., Pekmezović, T.,& Cvetković, D.. (2014). Introduction to Molecular genetic diagnostics. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 33(1), 3-7.
https://doi.org/10.2478/jomb-2013-0039
conv_2949
Novaković I, Maksimović N, Pavlović A, Žarković M, Rovcanin B, Mirković D, Pekmezović T, Cvetković D. Introduction to Molecular genetic diagnostics. in Journal of Medical Biochemistry. 2014;33(1):3-7.
doi:10.2478/jomb-2013-0039
conv_2949 .
Novaković, Ivana, Maksimović, Nela, Pavlović, Aleksandra, Žarković, Milena, Rovcanin, Branislav, Mirković, Duško, Pekmezović, Tatjana, Cvetković, Dragana, "Introduction to Molecular genetic diagnostics" in Journal of Medical Biochemistry, 33, no. 1 (2014):3-7,
https://doi.org/10.2478/jomb-2013-0039 .,
conv_2949 .
