Abstract
Analyses of genetic material are available in medical genetic practice for decades. Methods are ranged from cytogenetic karyotype analysis for processing numerical and structural chromosomal aberrations, by sophisticated examination of gene mutations on molecular level. In recent years new methods have been developed for rapid and efficient analysis of genetic material, known as the 'next generation sequencing' (NGS). These methods allow examination not only individual genes or parts of genes but also a larger number of segments, up to complete inherited basis i.e. the entire human genome research. Implementation NGS approach leads to 'silent revolution' in medical genetics and disciplines with which it co-operate, suggesting a change in the concept of diagnosis of inherited and other disorders. In prenatal diagnostics NGS has already found application in completely noninvasive detection of chromosomal aberrations (Down, Edwards, Patau syndrome, sex chromosomes aberrations) by analysis of fetal DNA in mother's blood. Such tests are available for pregnant women in Serbia also. In postnatal period NGS is used for the examination of selected genes, gene panels, up to entire genome/exome analysis, all with the aim to improve the diagnostics not only of primarily monogenic, but multifactorial disorders also. NGS could be applied in pharmacogenetic testing also, which is important step to realize 21st century's personalized medicine. It is proposed that the analyses of the complete genome become part of neonatal screening, but this has not been, yet, accepted. It is undeniable that the results of NGS make a great progress in medical - genetic practice, but gained new ethical dilemmas and questions.
Highlights
Analize genetičkog materijala imaju svoju pri menu u medicinskoj praksi već više decenija
Analyses of genetic material are available in medi cal genetic practice for decades
Methods are ranged from cytogenetic karyotype analysis for processing numerical and structural chromosomal aberrations, by sophisticat ed examination of gene mutations on molecular level
Summary
Poslednje decenije obeležene su burnim razvo jem molekularne genetike, i njenom primenom u svim biomedicinskim i srodnim disciplinama. Osamdesetih godina prošlog veka identifikovani su prvi geni odgovorni za monogenske bolesti čoveka (cistična fibroza, Dišenova mišićna distrofija) i razvijena je metoda PCR (lančana reakcija polimerizacije DNK), kao i automatsko sekvenciranje metodom po Sangeru. To je bio uvod u devedese godine, koje su obeležene realizacijom Projek ta genoma čoveka, kao do sada najvećeg internacional nog naučnog projekta. Upravo na toj ideji započeo je razvoj nove gene racije metoda za sekvenciranje DNK, poznatih kao “ generation sequencing” (NGS). Gotovo četiri decenije koristi se pomenuta metoda sekvenciranja po Sangeru, koja se odlikuje izvarednom preciznošću, ali se može pri meniti na segmene DNK realativno male dužine (ispod 1000bp). Nove metode se zasnivaju na ideji o paralelnom sekvenci ranju velikog broja segmenata DNK (masovno paralelno sekvenciranje) i potom bioinformatičkom povezivanju dobijenih podataka.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
