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Analiza humanega mitohondrijskega genoma s tehnologijo sekvenciranja naslednje generacije (NGS)
Slapnik, Barbara (Author), Horvat, Simon (Mentor) More about this mentor... This link opens in a new window

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Abstract
Mitohondrijske bolezni so posledica mutacij na mitohondrijski DNA (mtDNA), ki spadajo v skupino heterogenih bolezni, za katere je značilno pomanjkanje celične energije. Celica lahko vsebuje različen delež mtDNA divjega tipa in mutirane mtDNA, kar imenujemo heteroplazmija. Detekcija nizkostopenjskih heteroplazmij je ključna pri diagnozi mitohondrijskih bolezni, saj se lahko zaradi učinka ozkega grla iz nizkostopenjskih heteroplazmij razvije celica s takšnim deležem mutirane mtDNA, da se bolezen fenotipsko izrazi. Namen diplomskega dela je bil preveriti zmožnosti tehnologije sekvenciranja naslednje generacije pri detekciji nizkostopenjskih heteroplazmij. S standardnimi metodami, kot je sekvenciranje po Sangerjulahko detektiramo samo več kot 15 % heteroplazmijo. Z analizo mitohondrijskega genoma, ki smo ga izolirali iz polne človeške krvi,smo določili, da je s tehnologijo sekvenciranja naslednje generacije mogoče detektirati več kot 5 % heteroplazmijo. Prenos zgoraj omenjene metode v klinične preiskave je ključnega pomena, saj nam metoda omogoči hitro detekcijo mutacije na mtDNA. Poleg tega je odkrivanje nizkostopenjskih heteroplazmij ključno pri načrtovanju družine, saj so mitohondrijske bolezni pogosto letalne, za večino njih pa ne poznamo zdravil.

Language:Slovenian
Keywords:mitohondrijski genom, mitohondrijske bolezni, genetika, heteroplazmija, sekvenciranje naslednje generacije
Work type:Bachelor thesis/paper (mb11)
Tipology:2.11 - Undergraduate Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Technology
Year:2020
COBISS.SI-ID:20982275 This link opens in a new window
Views:485
Downloads:191
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Secondary language

Language:English
Title:Analysis of human mitochondrial genome with next-generation sequencing (NGS)
Abstract:
Mitochondrial diseases can be caused by mutations of mitochondrial DNA(mtDNA) or nuclear genes, commonly defined by a lack of cellular energy. In cells, we can find co-existence of wild-type and mutated mtDNA molecules known as heteroplasmy. Detecting a low-heteroplasmic variance is crucial for a diagnosis of mitochondrial diseases, as a result of the bottleneck effect. The aim of this study was to verify the ability of next-generation sequencing for the detection of low-level DNA heteroplasmy. Sanger sequencing is a standard method of heteroplasmic variation detection, yet the lowest heteroplasmy ratio detected by the Sanger sequencing is around 15%. With an analysis of mitochondrial genome isolated from human blood we determined that next-generation sequencing is able to detect more than 5 % mtDNA heteroplasmy. Transfer of next-generation sequencing to clinical diagnostics is important, due to its ability to quickly detect mtDNA mutations. Moreover, a diagnosis of low-level heteroplasmy is very important for making difficult reproductive choices, since pathogenic mtDNA mutations can cause progressive and lethal diseases with no available cure.

Keywords:mitochondrial genome, mitochondrial diseases, genetics, heteroplasmy, next-generation sequencing

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