This study aimed to detect genetic variants of the UGT1A1 gene in patients with Gilbert's syndrome. To detect this, primers were designed; PCR and direct sequencing were done for the promoter area of the gene as a diagnostic tool for the detection of any polymorphism. Variation and polymorphism were detected within the promoter mutants of the UDP glycosyltransferase _UGT1A1 gene that causes hyperbilirubinemia in a group of Iraqi patients compared with a group of the normal healthy individual as controls. The patients with hyperbilirubinemia in this study were 30 in which the total bilirubin level was more than 12 mg/dl serum; they included 25 males and 5 females, while the control group consisted of 20 healthy individuals. This study was carried out from September 2019 till April 2021. The result displayed high occurrence of Gilbert syndrome within male patients than in females, and regarding the analyses of mutation of bilirubin UDP glycosyltransferase _UGT1A1 gene, it is clear that the genotypic distribution of variation among the hyperbilirubinemia patients included all 30 patients, while SNP was detected in 18 patients out of 30 which indicate that the UGT1A1 gene mutation was a likely risk factor for the development of hyperbilirubinemia related Gilbert syndrome in Iraq. The homozygous and heterozygous polymorphisms A/G inside the promoter region of the UGT1A1 gene were effectively identified by sequencing. Our finding suggests that TA repeats and allele of UGT1A1 polymorphism A/G are associated with Gilbert's syndrome and act as genetic markers of this disease in Iraqi patients. To analyze data and sequence variation in gene, generous software was used after amplifying the gene. All processes include DNA extraction, PCR amplification, sequencing, and assembly.
To study ionizing radiation (IR) effects on biological systems there several techniques are used to identify molecular features of IR exposure, urinary detection of 8-ohdG by ELISA as a marker of DNA oxidative stress is one of the techniques was used in this research, when IR absorbs in a cell so that causing DNA damage and releases 8-ohdG through correction damage. The detection of XRCC1 expression by QRT- PCR is else technique in this study. The genotoxic of IR can be observed even at a low doses 5cGy, According to RPC (Radiation Protection Center) limited place in Baghdad as a source of low-dose IR( Europium 152) before it is removed, some of workers and slums are exposed to low dose of γ-rays ( 5cGy to 10 cGy ). The study groups included the (G1)fifty workers in metal melting are working closely with ( IR source), (G2)twenty five individuals from slums near the IR source, and(G3) twenty five volunteers individuals of male in different age, didn’t exposure to diagnostic x-ray examination or other radiotherapy. Peripheral blood are collected and urine from all individuals. The results indicate that the level of 8-OHDG factor in workers higher than slums individuals and negatively related with XRCC1 expression, also the expression of XRCC1 decreased in individuals exposed for more than 5cGy, and increasing in slums exposed to 5cGy. The low dose of γ-rays causing genotoxic effects due to a combination of DNA-damaging effects and reduced capacity of DNA repair.
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