Abstract

Polycystic Kidney Disease (PKD) is a genetic disease of the kidneys. PKD is one of the most common hereditary kidney diseases affecting millions worldwide. Flix Lejars was the first to use the term PKD in 1888, and PKD was identified as bilateral cysts growing inside the kidneys (ADPKD is caused by mutations in the PKD1 gene in 85% or due to mutations in the PKD2 gene in 15%. Mutations in the PKD1 gene or The PKD2 gene results in indistinguishable disease phenotypes; however, patients with PKD2 gene mutations often present with the disease later in life and have a better prognosis for the disease. Predominant polycystic kidneys in Dohuk city.
The current study included 71 patients between the ages of (20-55) years, who visited the kidney center in Dohuk Governorate, in a period of time ranging from June to September of 2022. The samples are divided into two groups depending on the biochemical results. The first group included 20 samples that were considered as a group. A control and the second group included 71 patients with renal disease. 5 ml of venous blood was taken from the two groups above, the blood sample was separated into three parts, and the first part was placed in tubes with EDTA anticoagulant for DNA extraction, and a part was placed in Eppendorf tubes containing trisol from In order to extract the RNA and the last part, it was placed in tubes devoid of any anticoagulant to separate the blood serum. The genetic variation of the (G/C) PKD1 gene was determined by the Tetra-ARMS-PCR technique, and the nucleotide sequence of the amplified pieces was determined based on the DNA Sequencing technique and the expression level of the PKD1 gene was analyzed based on on technique The RT-PCR and the measurement of DNA methylation in the primer of the PKD-1 gene were measured bilirubin).
The results of the study showed a decrease in the level of gene expression of the PKD1 gene in ADPKD patients compared to the level of gene expression in control samples. Control Δ ΔCT = 3.2 As for the patient group, the gene expression rate was Δ ΔCT = 0.35, and the results of the test following the DNA methylation process in the primer of the PKD1 gene showed that methylated DNA was present in all samples of the patients who were tested by 90% compared to the control group In which there was no methylation of the studied gene initiator, while the results showed the presence of bundles belonging to the unmethylated process in all samples, patients with healthy ones, at a rate of 100%. ≤0.05. The glucose level in patients was 270 (mg/dl) compared to healthy subjects, when the ratio was 105 (mg/dl). The levels of urea in patients were 107 (mg/dl) compared to healthy subjects, when the ratio was 45 (gm/dl). dl). Creatinine levels in patients were 5.11 (mg/dl) compared to healthy subjects, when the ratio was 0.90 (mg/dl).). Calcium levels in patients were 7.47 (mg/dl) compared to healthy subjects, when the ratio was 10 (mg/dl).)We conclude from this study that the studied genetic variation of the PKD1 gene is one of the main causes of polycystic kidney disease prevalent in the study samples.