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Genetic analysis of disease-related short tandem DNA repeat instability in yeast

Haitjema, Berit (2023) Genetic analysis of disease-related short tandem DNA repeat instability in yeast. Bachelor's Research Project (period 2b), Biology.

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Abstract

DNA repeat-instability causes up to 50 human diseases, most of which are currently not treatable or preventable. These pathologies originate from DNA repeat expansion in the human genome, which can lead to interference with important cellular processes and to cell death and disease. In this pilot experiment, we aimed to find the optimal repeat length for 2 of the 13 known disease-causing repeats, namely GAA/TTC and TGAAA/TTTCA, in yeast. The results of this pilot experiment will be used to determine the optimal repeat length for a genome wide screening done by the Chang research group (EIRBA). With this result genes involved in the decrease and increase in DNA instability in yeast can be identified. We found that the strains that were tested did not yet show a gross chromosomal rearrangement (GCR) frequency in the desired range. Therefore, different repeat lengths should be used for these two DNA repeat types in both orientations to obtain more suitable GCR frequency results. The results of the following genome wide screening could be used to identify important genetic factors for repeat expansion diseases (REDs) in humans, and hopefully lead to promising treatment options.

Item Type: Thesis (Bachelor's Research Project (period 2b))
Supervisor name: Novarina, D.
Degree programme: Biology
Thesis type: Bachelor's Research Project (period 2b)
Language: English
Date Deposited: 07 Jun 2023 14:45
Last Modified: 07 Jun 2023 14:45
URI: https://fse.studenttheses.ub.rug.nl/id/eprint/29860

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