20.500.12556/RUL-188568 Genetska analiza motenj komplementa pri bolnikih z ledvično simptomatiko Genetic analysis of complement disorders in patients with renal symptoms Komplementni sistem je pomemben del prirojene imunosti, katerega delovanje mora biti natančno uravnano, saj lahko nenadzorovana aktivacija vodi v poškodbe tkiv. Motnje v regulaciji so povezane z razvojem komplementno-posredovanih ledvičnih bolezni, kot sta aHUS in C3G. Namen magistrske naloge je bil raziskati genetsko ozadje komplementnega sistema pri bolnikih z ledvično patologijo. V raziskavo smo vključili bolnike iz bolnišničnega okolja. Izvedli smo genotipizacijo SNP in analizo haplotipov v genih CFH in MCP/CD46. Poleg tega smo s tarčnim sekvenciranjem z uporabo tehnologije Illumina analizirali izbrane gene, vključene v delovanje komplementnega sistema, identificirane genetske različice pa ovrednotili s programom Franklin. Rezultati so pokazali prisotnost izbranih SNP in rizičnih haplotipov CFH-H1, CFH-H3, MCPaaggt in MCPggaac. Z analizo sekvenciranja smo identificirali genetske različice različnih stopenj kliničnega pomena, ki smo jih razvrstili kot benigne, verjetno benigne, različice neznanega pomena, verjetno patogene in patogene. Tehnični parametri kakovosti sekvenciranja so potrdili zanesljivost pridobljenih rezultatov. Kljub omejitvam raziskave, kot sta razmeroma majhno število preiskovancev in odsotnost kontrolne skupine, rezultati kažejo na pomembno vlogo genetskih dejavnikov pri komplementno posredovanih ledvičnih boleznih. Raziskava prispeva k boljšemu razumevanju genetskega ozadja teh bolezni ter predstavlja osnovo za nadaljnje raziskave in izboljšanje genetske diagnostike. The complement system is an important component of the innate immune system whose activity must be tightly regulated, as uncontrolled activation can lead to tissue damage. Dysregulation of the complement system is associated with the development of complement-mediated kidney diseases, such as aHUS and C3G. The aim of this master's thesis was to investigate the genetic background of the complement system in patients with renal pathology. Patients from a hospital setting were included in the study. SNP genotyping and haplotype analysis were performed for the CFH and MCP/CD46 genes. In addition, targeted sequencing using Illumina technology was performed to analyse selected genes involved in the complement system, and the identified genetic variants were interpreted using the Franklin platform. The results demonstrated the presence of selected SNPs and the risk haplotypes CFH-H1, CFH-H3, MCPaaggt and MCPggaac. Sequence analysis identified genetic variants with different levels of clinical significance, which were classified as benign, likely benign, variants of uncertain significance VUS, likely pathogenic, and pathogenic. The technical quality parameters of sequencing confirmed the reliability of the obtained results. Despite the limitations of the study, including the relatively small number of subjects and the absence of a control group, the results indicate an important role of genetic factors in complementmediated kidney diseases. This study contributes to a better understanding of the genetic background of these diseases and provides a basis for future research and the improvement of genetic diagnostics. molekularna genetika komplementni sistem CFH MCP/CD46 SNP haplotipi aHUS C3G genetska diagnostika ledvične bolezni molecular genetics complement system CFH MCP/CD46 SNP haplotypes aHUS C3G genetic diagnosis kidney diseases true false false [E. Ratajc] Slovenski jezik Angleški jezik Magistrsko delo/naloga 2026-09-24 08:37:13 2026-09-24 08:37:18 2026-09-25 04:28:21 0000-00-00 00:00:00 2026 0 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 577.21:616.61 292241 292350467 62772.pdf 62772.pdf 1 045E780AABD497B785FDC77C216B94C7 d2a8003029f280a0345d0d16b8cf3176e21fb3b65980faeea9de947ac6046c90 5158c169-b7e2-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=248818 Biotehniška fakulteta 0 0 0