Title DNA profiliranje i baze podataka
Title (english) DNA profiling and databases
Author Petra Popović
Mentor Damir Marjanović (mentor)
Mentor Josip Crnjac (komentor)
Committee member Ivana Kružić (predsjednik povjerenstva)
Committee member Snježana Štambuk (član povjerenstva)
Committee member Nina Mišić Radanović (član povjerenstva)
Granter University of Split University Department of Forensic Sciences Split
Defense date and country 2018-12-05, Croatia
Scientific / art field, discipline and subdiscipline NATURAL SCIENCES Biology
Abstract U uvodnom dijelu ovoga rada, predstavljen je povijesni pregled razvoja DNA metodologije, tehnologije i njenog prihvaćanja kao relevantnog dokaza u kriminalističkim istragama i među pravosudnim tijelima. Cilj ovoga rada je prikazati metode i načine analize DNA u forenzici te opisati i usporediti multipleksne sustave za analizu genetičkih lokusa. Također će se objasniti njihove prednosti i nedostatci te dati preporuka o korištenju. Na kraju rada se donosi pregled najpoznatijih DNA baza podataka u svijetu i obrazloženje njihove povezanosti sa multipleksnim sustavima za analizu s ciljem naglašavanja važnosti DNA baza podataka i razmjene među njima. Otkriće svojstva polimorfizma koje opisuje eukariotski genom, potaknulo je razvoj DNA profiliranja koje se zasniva na principu korištenja određenih molekularnih markera, uglavnom STR, ali to mogu biti i VNTR i SNP markeri. Konačan rezultat DNA profiliranja prikazuje se elektroferogramom, odnosno setom markera (lokusa) odabranog komercijalnog kompleta multipleksnog sustava, sa pripadajućim pikovima koji predstavljaju alelne varijante. Opisane su metode rada osnovnih multipleksnih sustava za analizu DNA, najviše autosomalnih STR sustava triju korporacija (Promega, Applied Biosystems, Qiagen), kao i spolnih STR markera (X i Y multipleksni sustavi), mtDNA te miniSTR sustava. Rezultati su pokazali da odabir određenog komercijalnog multipleksnog STR sustava za DNA profiliranje ovisi najviše o kvaliteti uzorka kao i okolnostima u svrhu kojih se profiliranje vrši. Najviše se koriste autosomalni multipleksni STR sustavi zbog mogućnosti koamplifikacije na velikom broju lokusa te zbog značajne visoke snage diskriminacije i individualizacije. U slučajevima degradirane DNA u uzorku ili uzoraka koji su propali zbog utjecaja vanjskih faktora, najbolji odabir su miniSTR sustavi ili mtDNA. U svrhu genealogije i dokazivanja očinstva ili majčinstva mogu se koristiti X-vezani ili Y-vezani STR markeri te mtDNA. DNA baze podataka omogućuju pretraživanja i pohranjivanja DNA profila u svrhu identifikacije počinitelja zločina, nestalih i neidentificiranih osoba kao i prevencije svih oblika kriminala. Sadržani DNA profili su izrađeni prema preciznim uputama o analizi na određenim lokusima koji su odabrani u pojedinim multipleksnim sustavima.
Abstract (english) In the introductory part of this thesis, a historical review of DNA methodology, technology and its acceptance as a relevant evidence in criminal investigations and judicial authorities has been presented. The aim of this thesis is to demonstrate methods of DNA analysis in forensics and to describe and compare multiplex systems for genetic loci analysis. In thesis we will also show advantages and disadvantages and make usage recommendations for particular system. In the end of the thesis is an overview of the most renowned DNA databases in the world and the explanation of their association with multiplex systems for analysis with goal to emphasize their importance and importance of data exchange among them. The discovery of the polymorphisms described by the eukaryotic genome has prompted the development of DNA profiling based on the use of certain molecular markers, mostly STR, but also by VNTR and SNP markers. The ultimate DNA profiling result is shown by the electropherogram, set of markers (loci) of the selected commercial set of the multiplex system, with the associated peaks representing alleles. The discovery of the polymorphisms described by the eukaryotic genome has prompted the development of DNA profiling based on the use of certain molecular markers, mostly STR, but also by VNTR and SNP markers. The ultimate DNA profiling result is shown by the electropherogram, set of markers (loci) of the selected commercial set of the multiplex system, with the associated peaks representing alleles. The methods of basic multiplex DNA analysis systems, the most autosomal STR systems of three corporations (Promega, Applied Biosystems, Qiagen), as well as sex STR markers (X and Y multiplex systems), mtDNA and miniSTR systems are described. The results have shown that selecting a particular commercial multiplex STR system for DNA profiling depends most on the sample quality as well as the circumstances for which profiling is performed. Most autosomal multiplex STRs are used due to the possibility of co-amplification on a large number of loci and due to the significant high levels of discrimination and individualization. In cases of degraded DNA in a sample or samples that have failed due to the influence of external factors, the best choice is miniSTR systems or mtDNA. X-linked or Y-bound STR markers and mtDNA may be used for the purposes of genealogy and paternity or motherhood demonstration. DNA databases allow searching and storing of DNA profiles for the purpose of identifying perpetrators, missing and unidentified persons as well as the prevention of all forms of crime. Contained DNA profiles were made according to precise analysis instructions on certain loci that were selected in multiple multiplex systems.
Keywords
DNA profiliranje
multipleksni sustavi
molekularni markeri
DNA baza podataka
Keywords (english)
DNA profiling
multiplex systems
molecular markers
DNA database
Language croatian
URN:NBN urn:nbn:hr:227:855715
Study programme Title: Forensic Sciences Study programme type: university Study level: graduate Academic / professional title: magistar/magistra forenzike (magistar/magistra forenzike)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Public note Forenzična kemija i molekularna biologija
Created on 2019-09-09 12:27:19