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- W4379979984 abstract "The human genome harbors hundreds of ribosomal genes (rDNA) that encode the three types of ribosomal RNA (18S rRNA, 5.8S rRNA, 28S rRNA). Changes of the rDNA abundance result in genome instability, which in turn triggers aging, cancer and various diseases. Objective: Studying the rDNA copy numbers in the genomes of various subgroups of CF patients. Methods: DNA samples were assayed in the ‘Combined sample of patients’, ‘Adults’ and ‘Children’ groups. To quantify the tandem ribosomal repeats in the patient’s genome, non-radioactive quantitative hybridization was applied. Results: In the combined children-adults group, the rDNA copy numbers (M ± SD) were: in patients with a FEV1 of more than 70% of the expected value - 545.5 ± 102.4 copies; in patients with a FEV1 of 40–70% of the expected value - 576.2 ± 120.6; in patients with a FEV1 of less than 40% of the expected value – 600.2 ± 132.5 (p = 0.034). In the subgroup of Adult patients chronically infected by Burkholderia cepacia complex (BCC), the rDNA copy number was 626.6 ± 131.0, and without BCC - 571.0 ± 125.9 (p = 0.014). Children with BCC had 655.0 ± 145.5 copies, while those without BCC had 555.2 ± 114.1 (p = 0.251). In the Combined sample with BCC, we found 628.2 ± 130.5 copies, whereas in the Combined sample without BCC - 565.2 ± 121.7 copies (p = 0.001). The rDNA copy count in patients with the complex allele p.[Leu467Phe; Phe508del] was 513 ± 96 copies, in the group of homozygous carriers of Phe508del/ Phe508del it was 629 ± 129 copies (p = 0.001). Among patients with the complex allele, no death was registered, and P. aeruginosa infection was less common (p = 0.001). The individual rDNA copy number was stable within 12 years in the group of 10 children. Conclusion: In the presence of BCC infection in patients with diminished lung function (a FEV1 of less than 40%), the number of rDNA copies was the highest. The number of rDNA copies was lower in patients with complex allele p.[Leu467Phe;Phe508del] compared to Phe508del/Phe508del group." @default.
- W4379979984 created "2023-06-10" @default.
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- W4379979984 date "2023-06-01" @default.
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- W4379979984 title "P018 The influence of rDNA copy number in the cystic fibrosis (CF) patient’s genome and carriage of the p.[Leu467Phe;Phe508del] complex allele on the course of disease" @default.
- W4379979984 doi "https://doi.org/10.1016/s1569-1993(23)00394-6" @default.
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