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  • Določanje kandidatnih genov za vezikoureterni refluks : [doktorska disertacija]
    Zagradišnik, Boris
    Introduction. Primary vesico-ureteric reflux (VUR) is a common urological anomaly in children with an approximate incidence of 1 % in newborns. It is a disease of genetic origin and it shows a strong ... familial association. The reflux appears to be inherited in an autosomal dominant mode with reduced penetrance but candidate genes have not been described yet. Data from a genome wide linkage study and from studies on knock-out mice with VUR phenotype suggest that several other genes if mutated might cause the development of VUR independently. Such candidate genes causing reflux in mice are genes for angiotensin II receptor type 2 (AGTR2) and uroplakin 3 (UPK3). In addition, variable clinical presentations of the disease in affected families suggest that other genes might affect the penetrance of VUR. Single nucleotide polymorphisms such as C825T in the gene for G protein ß3 subunit (GNB3), L10P in the gene for transforming growth factor ß1 (TGFB1) and C2046T in the gene for the [alpha]1 chain of collagen type 1 (COL1A1) have biological consequences and they could influence the development of VUR. Methods. DNA was extracted from venous blood from 85 patients diagnosed with primary VUR. Coding exons of genes AGTR2, UPK3 and UPK1B were screened using heteroduplex analysis and detected nucleotide variations were confirmed with sequencing. Polymorphisms C825T, L10P and C2046T were detected with the PCR-RFLP method. Results. A sequence variation changing asparagin to aspartic acid at the codon137 (N137D) in exon 5 of the UPK1B gene was detected in 4.7 % of patients with VUR and in 0.83 % of controls (OR=5.87, 95 % Cl 1.54-22.33, p=0.017). Also an overrepresentation of 825T allele in the GNB3 gene was observed in patients when compared to the control group of healthy individuals ([chi] [sup] 2=7.38, p=0.025, df=2). Conclusion. Our results implicate UPK1B gene in the development of VUR and the detected aminoacid substitution N137D might be a direct cause for the disease. Also the C825T polymorphism from the GNB3 gene might be involved in the development of the VUR, possibly as a genetic modifier. Genes AGTR2 and UPK3 as well as polymorphisms L10P from gene TGFB1 and C2046T from gene COL1A1 were not associated with the development of VUR in our sample of patients.
    Vrsta gradiva - disertacija ; neleposlovje za odrasle
    Založništvo in izdelava - Ljubljana : [B. Zagradišnik], 2004
    Jezik - slovenski
    COBISS.SI-ID - 1712959

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