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Tonsil tissue is a very important component of the human immunity system, contributing to the functioning of the cellular and humoral defence system, especially in childhood. The endoplasmic reticulum (ER) is an organelle that has a very important function in the balanced functioning of cells, in which the accumulation of a cellular protein called ER stress occurs in case of dysfunction. ER stress influences the pathogenesis of many diseases and immune system functions. We aimed to investigate the relation between the diseases of tonsil tissue and ER stress response to elucidate the mechanisms of diseases related with the immune system. A prospective study was conducted in 46 children aged between 2 and 16 years who underwent tonsillectomy for chronic tonsillitis or tonsillar hypertrophy. Tonsil tissue was separated into two groups according to their size and evaluated in terms of ER stress markers and apoptosis markers by Real-time PCR and Western blot analysis. The ΔCT levels of ER stress markers (ATF4, ATF6, CHOP, GRP78, EIF2AK3, ERN1, GRP94) were greater in children with chronic tonsillitis (p

A novel coronavirus (SARS-CoV-2) outbreak, responsible for a pneumonia-associated respiratory disorder (COVID-19), has started in early December 2019 in Wuhan, China, and has rapidly spread around the world. Rapid and accurate diagnostic testing plays a crucial role in tackling the COVID-19 pandemic. In this study, it was aimed to compare 5 primer sets designed to amplify different regions for the detection of SARS-CoV-2 and to perform sequence analysis. Conventional RT-PCR was carried out using primers targeting different regions of the virus genome including ORF1ab, Envelope (E), RNA-dependent RNA polymerase (RdRp), Spike (S) and Nucleocapsid (N) genes for the diagnosis of COVID-19. DNA sequence of ORF1ab gene from each sample were compared with the DNA sequence data of SARS-CoV-2 stored in the GenBank and ORF1ab phylogenetic tree was constructed. The amplicon sizes of ORF1ab, S, E, N and RdRp genes were 588 bp, 440 bp, 145 bp, 323 bp and 196 bp, respectively. The SARS-CoV-2 RNA was detected from 74% of total samples from RdRp gene, 87% for N gene, 74% for S gene, 61% for E gene and 82% for ORF1ab region. The ORF1ab sequences of SARS-CoV-2 from 82 patients were had 100% identity to the sequence of Wuhan isolate and among themselves. The phylogenetic analysis revealed that all isolates formed a cluster. The results of this study suggest that the N region is the best for SARS-CoV-2 identification.

Homocysteine levels have been investigated in patients with obstructive sleep apnoea syndrome (OSAS), a syndrome associated with a high level of comorbid cardiovascular disease (CVD). While significant increases in homocysteine levels have been observed in OSAS patients with CVD, no increases have been noted in OSAS patients without CVD. This study was designed to investigate the methylenetetrahydrofolate reductase ( MTHFR) gene, which is essential for homocysteine metabolism and has been shown to have a causal role in the development of CVD. Eighty subjects, 30 diagnosed with OSAS by polysomnography and 50 controls (healthy volunteers with no symptoms of OSAS) were enrolled. Two mutations in the MTHFR gene were investigated using polymerase chain reactions and restriction fragment length polymorphisms. No significant differences were found in mean age, body mass index, homocysteine levels, or MTHFR allele or genotype distributions between patient and control groups.

Citation Yenicesu GI, Cetin M, Ozdemir O, Cetin A, Ozen F, Yenicesu C, Yildiz C, Kocak N. A prospective case–control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss. Am J Reprod Immunol 2010; 63: 126–136 Problem Recurrent pregnancy loss (RPL) is a heterogeneous disorder. The contribution of specific thrombophilic genes to the pathophysiology of RPL has remained controversial. We evaluated the prevalences of 12 thrombophilic gene mutations among homogenous Caucasian couples with RPL and fertiles. Method of study This was a prospective case–control study evaluating 272 women with RPL and 152 of their male partners, and a control group of 56 fertile couples. We investigated mutations including FV Leiden, factor V H1299R, factor II prothrombin G20210A, F XIII V34L, β-fibrinogen −455G>A, plasminogen activator inhibitor-1, GPIIIa L33P (HPA-1 a/b L33P), MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E. Results Overall, heterozygous mutations of FV Leiden, FXIII V34L, GPIIIa L33P, Apo E4, and prothrombin G20210A and homozygous mutations of PAI-1and MTHFR C677T were associated with RPL. There was no meaningful association between RPL and other studied genes. Conclusion In contrast to the other mutations and polymorphisms, FV Leiden, FXIII V34L, GPIIIa L33P, Apo E, prothrombin G20210A, PAI-1 and MTHFR C677T gene mutations may help to identify the couples at risk for recurrent pregnancy loss.

WOS: 000263540800026, Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.

Bacterial strain typing is an important process for diagnosis, treatment and epidemiological investigations. Current bacterial strain typing methods may be classified into two main categories: phenotyping and genotyping. Phenotypic characters are the reflection of genetic contents. Genotyping, which refers discrimination of bacterial strains based on their genetic content, has recently become widely used for bacterial strain typing. The methods already used in genotyping of bacteria are quite different from each other. In this review we tried to summarize the basic principles of DNAbased methods used in genotyping of bacteria and describe some important DNA regions that are used in genotyping of bacteria. J Microbiol Infect Dis 2011;1(1):42-46.

WOS: 000298011800002, PubMed: 21897766, Objective: The purpose of this study was to evaluate the relationship between 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and Attention Deficit Hyperactivity Disorder (ADHD) in a sample of Turkish children. Study Design: MTHFR gene polymorphisms were assessed in 40 patients with ADHD and 30 healty controls. Two mutations in the MTHFR gene were investigated using polymerase chain reactions and restriction fragment length polymorphisms. Results: Although there were no statistically significant differences in genotype distributions of the C677T alleles between the ADHD and the control groups (p=0,678) but the genotypic pattern of the distributions of the A1298C alleles was different between the ADHD patients and the controls (p=0,033). Conclusions: Preliminary data imply a possible relationship between A1298C MTHFR polymorphisms and the ADHD.