diplomsko delo
David Krisper (Author), Jernej Ogorevc (Mentor)

Abstract

Tehnologija CRISPR/Cas se uporablja za preurejanje genoma. Gre za sistem, ki izhaja iz pridobljenega imunskega sistema prokariontov. V biotehnologiji se uporablja modificirana metoda, ki temelji na spojitvi sgRNA molekule in Cas endonukleaze. Točkovne mutacije so posledica tranzicij in transverzij. Take spremembe nukleotidov v genomu lahko vodijo do razvoja bolezenskih stanj. Na podlagi sistema CRISPR/Cas se razvijajo urejevalci posameznih nukleotidov, ki omogočajo spreminjanje posameznih nukleotidov. Ti temeljijo na pripojitvi deaminaz ali reverznih transkriptaz na endonukleazno neaktivne mutante Cas9 proteina (npr. Cas9 nikaza, katalitično neaktivni Cas9 – dCas9). Urejevalci posameznih nukleotidnih baz omogočajo zamenjavo posameznega nukleotida za drug nukleotid. Z razvojem urejevalcev posameznih nukleotidov se odpira možnost zdravljenja predvsem monogenskih bolezni, kot so npr. anemija srpastih celic, β-talasemija in amiotrofična lateralna skleroza, kjer so vzrok bolezni točkovne mutacije.

Keywords

CRISPR/Cas;SNP;urejanje genoma;urejevalec posameznih nukleotidov;

Data

Language: Slovenian
Year of publishing:
Typology: 2.11 - Undergraduate Thesis
Organization: UL BF - Biotechnical Faculty
Publisher: [D. Krisper]
UDC: 602.6:602.8:575.111(043.2)
COBISS: 76653059 Link will open in a new window
Views: 202
Downloads: 38
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Other data

Secondary language: English
Secondary title: Replacement of individual nucleotides using the CRISPR/Cas technology
Secondary abstract: The CRISPR/Cas technology is used to edit genomes. It is a system, derived from the acquired immunity of prokaryotes. A modified method based on the fusion of the sgRNA molecule and a Cas endonuclease is used in biotechnology. Point mutations are the result of transitions and transversions. Such changes of nucleotides in the genome can lead to development of diseases. CRISPR/Cas-base editors of single nucleotide bases are being developed to modify individual nucleotides. The base editors are a fusion of deaminase enyzmes or reverse transcriptases to Cas9 proteins (e.g., Cas9 nicase or catalytically inactive Cas9 - dCas9). Base editors enable replacement of individual nucleotides in deamination reactions. Development of base editors will be useful to treat monogenic diseases such as sickle cell anemia, β-thalassemia and amytrophic lateral sclerosis, where single nucleotide mutations are the cause of diseases.
Secondary keywords: nucleotide;genome editing;base editor;
Type (COBISS): Bachelor thesis/paper
Study programme: 0
Thesis comment: Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages: VI, 20 str.
ID: 13381051