Bcıı—RFLP profiles for serum amiloid A1 and mutatedMEFVgene prevalence in chronic renal failure patients requiring long-term hemodialysis

Abstract

Background and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BclI-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p50.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (

Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey

“…MEFV gene has ten exons and encodes pyrin protein, consisting of 781 amino acids (The International FMF Consortium 1997). FMF are common especially in Jews, Arabs, Armenians, and Turks (Livneh et al 1997;Ozdemir et al 2015;Ş ahin et al 2015). Population screening in Central Anatolia region of Turkey revealed that M694V is the most frequent mutation in MEFV gene, followed by E148Q, M680I (G/C) and V726A (Ozdemir et al 2011;Koksal et al 2009;Huzmeli et al 2016).…”

Evaluation of 61 Secondary Amyloidosis Patients: A Single-Center Experience from Turkey

“…It is important to form a clinical picture of FMF in Turkey, especially in the province of Sivas where FMF is most frequently observed [12][13][14]. Screening of individuals who have FMF in their family histories and evaluating the treatments of phenotype III cases that have mutations but do not show clinical symptoms are prominent issues to be examined.…”

“…The MEFV gene, located on chromosome 16p13.3 and encoding a protein called pyrin, is responsible for Familial Mediterranean Fever (FMF) disease. Mutations in the MEFV gene have been found in the majority of FMF patients [11][12][13][14]. The vast majority of MEFV mutations identified in FMF patients include mutations (M680I, M694V, M694I, and V726A) clustered in exon 10 and a mutation in exon 2 (E148Q) [15].…”

Evaluating Effect of Cognitive Behavioral Nursing on Quality of Life in Hemodialysis Patients

“…In chronic kidney function injury process, endotoxin in the body cannot be metabolized in time, and toxin retention in the body of patients will cause damage to their kidney function, forming a vicious circle as patient's chronic kidney function was injured [2,3]. Base on the reports, hemodialysis can effectively remove the toxin molecules in the blood and control the progression of the patient's disease in chronic kidney patients [4,5]. However, in hemodialysis process, patients affected by the condition, patient easy to produce bad emotion.…”