Introduction to Molecular genetic diagnostics
2014
Аутори
Novaković, IvanaMaksimović, Nela
Pavlović, Aleksandra
Žarković, Milena
Rovcanin, Branislav
Mirković, Duško
Pekmezović, Tatjana
Cvetković, Dragana
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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.
Кључне речи:
molecular genetics / test / methods / genetic counsellingИзвор:
Journal of Medical Biochemistry, 2014, 33, 1, 3-7Издавач:
- Društvo medicinskih biohemičara Srbije, Beograd i Versita
Финансирање / пројекти:
- Анализа генетичких маркера мишићне дистоније (RS-175091)
DOI: 10.2478/jomb-2013-0039
ISSN: 1452-8258
WoS: 000326578500002
Scopus: 2-s2.0-84989205065
Институција/група
PharmacyTY - 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 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" }
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
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 .
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 . .