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Shayesteh Alijabari, Elham Siasi, Robab Rafiei Tabatabae,
Volume 14, Issue 3 (2-2024)
Abstract
Aim: Gastric cancer is the second common cause of cancer death worldwide. Cytokines are mediators of peptides that are involved in the regulation of immunological responses, inflammatory systemic responses, and repair responses to risk factors. Interleukins are cytokines that are produced on other lymphocytes. Interleukin-10, is one of the body's most important interleukin that to inhibit inflammatory and immune responses. Different polymorphisms are found in the promoter region of interleukin 10 gene, which by changing the rate of this gene expression, could been altered its function. In this present research, was studied of relation between (-1082G/A) polymorphism in interleukin 10 gene and gastric cancer.
Material and methods: Two groups consist of 50 patients and 50 controls, were selected as the study samples population and were taken blood samples from them. Next DNA extraction from samples, genotyping of this polymorphism was used by Tetra-ARMS-PCR. Then was analyzed the results.
Results: Samples genotyping was showed frequency of A and G alleles 74% and 26%, in patient groups and in control groups 68% and 32%, respectively. There was a significant association between GG genotype in this polymorphism and gastric cancer (P=0.013).
Conclusion: This study results shown that can be used (-1082G/A) polymorphism in interleukin 10 gene as a molecular biomarker for gastric cancer in Iranian patients’ population.
Volume 23, Issue 5 (Winter 2021)
Abstract
Aims: Anion Exchange Protein 1 (AE1), also known as band 3, is one of the most abundant proteins in the red blood cell membrane and renal tubular a-intercalated cells with two different isoforms (eAE1 and kAE1, respectively). Mutations of the anion exchanger 1 (AE1) gene can cause hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA).
Materials & Methods: In the present Iranian families, five hereditary spherocytosis Patients with symptoms relative to kidney problems which investigated in from the Ali-Asghar Children’s Hospital. A patient suspected dRTA was employed for genetic analyses with whole-exome sequencing and Sanger sequencing methods. Data were analyzed using the Wilcoxon signed-rank test in SPSS Statistic
Findings: Clinical manifestations and laboratory findings of 5 study patients were observed in growth retardation, Splenomegaly, and significant urine infection. Also, one of 5 patients showed severe failure to thrive, Short stature, repeated urinary infection, and weakness. We have found a Combination of a novel homozygote missense variant (c.2494C>T (p.Arg832Cys) in the anion exchanger 1 and a heterozygote missense variant in SPTA1 gene (c. 466C>T (p. Arg156Trp).
Conclusions: These results confirm the importance of Kidney failure with Hereditary Spherocytosis diseases. The combination of two mutations in the Patient 3 manifested as incomplete distal renal tubular acidosis (dRTA) in the affected patient. We reported for the first time, clinical and genetic characteristics of incomplete distal renal tubular acidosis disease in the affected patient.