3 research outputs found

    DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

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      Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle's loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region

    SINGLE-NUCLEOTIDE POLYMORPHISMS OF CALCIUM-SENSING RECEPTOR ENCODING GENE ASSOCIATED WITH CALCIUM KIDNEY STONE DISEASE IN BABYLON PROVINCE

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      Objective: The calcium-sensing receptor (CASR) is a G-protein-coupled receptor that is mainly expressed in the parathyroid and the kidneys where it regulates parathyroid hormone secretion and renal tubular calcium reabsorption. Inactivating and activating CASR gene due to mutations severally caused hypercalcemia or hypocalcemia disorders. The aim of the study was to investigate the risk factor of CASR rs1801725 (Ala986Ser) patients with renal disease.Method: The blood samples were collected from 100 patients and divided into two groups, each one containing 50 samples; chronic kidney disease and end-stage renal disease, who admitted Merjan Teaching Hospital in Babylon Province, Iraq, from February to July 2016. In addition, healthy persons as a control group (50 samples). Genotyping of CASR single-nucleotide polymorphisms (SNP) was performed using a polymerase chain reaction technique, followed by single-strand conformation polymorphism. Accordingly, these DNA polymorphisms were confirmed using DNA sequencing.Results: The conformational haplotypes of CASR, exon7 NCBI Primer3plus reference were obtained in three patterns, including two, three, and four bands, due to the presence SNPs within the studied region. These SNPs leads to change three amino acid residues of CASR, including amino acid substitutions were Ala 128→ Ser 128, Leu 155→Tye 155, and Leu 156→ Ser 156 that may affect or modified the tertiary structure of the receptor, subsequently the function like the affinity to calcium ion may be effected.Conclusion: These results suggest that the variants of CASR SNP, namely, rs1801725 might be involved in susceptibility to kidney stone disease

    Assessment of the efficacy and long-term outcomes of minimally invasive techniques in dental restoration

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    The purpose of this study is to evaluate the effectiveness and long-term effects of minimally invasive dental repair procedures. Using SPSS, 400 patient records from a supplementary dataset were examined. Examined were the patient satisfaction levels, success rates, durability of the restoration, kind of restoration, material used, and complications. The findings showed that Dental Crowns and Composite Fillings were the two restoration kinds that were most frequently used, with Composite Resin being the favored substance. An important portion of cases had complications, like dental caries and fractures. However, the majority of restorations were effective and left patients with high levels of satisfaction. The statistical studies, which included chi-square tests and ANOVA using SPSS version 2021, revealed no significant correlation between the kind of restoration and problems as well as no significant variation in the longevity of the restorations among the various restoration techniques. These results imply that the selection of a minimally invasive procedure might not have a substantial impact on restoration results. When planning dental restorations, it's crucial to take the preferences and circumstances specific to each patient into account. To validate these results, additional research using bigger sample sizes and detailed databases is advised
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