Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

AbstractAimVarious mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease.MethodsOne hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene.ResultsAs a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p<0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p>0.05).ConclusionsTo our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed

Are there interchromosomal effects of chromosomal rearrangements on occurrence of aneuploidy in sperm nuclei of carriers?

Bu çalışma, 25-28 Mayıs 2002 tarihleri arasında European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics'de bildiri olarak sunulmuştur.European Society of Human Genetic

Smooth muscle cells are derived predominantly from tissue explant of inguinal hernia sac

GİRİŞ ve AMAÇ: Processus vaginalisin (PV) kapanmasının, testisin inişini sağlamak için geçici olarak bulunan düz kas hücrelerinin, devamlılığına bağlı olduğu ileri sürülmüştür. Bu amaçla, inguinal herni keseleri, PV kapanması ve düz kas hücre varlığı arasındaki ilişkinin değerlendirilmesi için kültüre edildi. Bu çalışma, sadece inguinal herni keselerinde düz kas hücresi varlığını gösteren ek bilgiler vermekle kalmayıp, aynı zamanda inguinal herninin cerrahi dışı tedavisi için yapılacak çalışmalar için yeni fikirler sunmaktadır. YÖNTEM ve GEREÇLER: Herni keseleri, yaşları 2 ay ile 5 yaş arasında değişen 11 çocuktan inguinal herni ameliyatı sırasında elde edildi. Örnekler uygun şekilde hazırlandı ve kültüre edildi. Hücrelerin morfolojik özellikleri ışık mikroskobu ile değerlendirildi. Hücrelerin hayatiyetleri, tripan blue exclusion metodu ile değerlendirildi. Gelişen hücreler, imminohistokimyasal olarak aktin ve miyozin ile boyandı. BULGULAR: Işık mikroskobu incelemesi ile bu hücrelerin iğ şekilli olduğu ve santral yerleşimli yuvarlak çekirdeklerinin bulunduğu görülmüştür. Tüm flask üreyen hücrelerle dolduğunda, kontakt inhibisyon olmadığından, üst üste çoğalan hücreler tipik tepe-vadi görünümü oluşturmuştur. Hücrelerin canlılığı %95’ in üzerinde bulunmuştur. Gelişen hücrelerin % 80 inin düz kas aktin ve düz kas myosin antikorları ile boyandığı saptanmıştır. TARTIŞMA ve SONUÇ: Herni kesesi dokulardan gelişen hücrelerin büyük çoğunluğunu, düz kas hücreleri oluşturmuştur. Bu bulgu, PV’in inhibisyonu ile düz kas hücresi varlığı arasındaki ilişkiyi desteklemektedir. Bu bilgi inguinal herninin cerrahi dışı tedavisi üzerinde yapılacak çalışmalar için kullanılabilecektir.INTRODUCTION: Obliteration of processus vaginalis (PV) has been proposed to result from persistence of smooth muscle which is presented transiently to propel the testis. Sacs associated with inguinal hernia were cultivated to define the cells that are going to proliferate for evaluating the association of inhibition of obliteration of PV and the presence of smooth muscle (SM). The present study does not only provide additional information about the presence of SM in sacs from boys with inguinal hernia, but also provides a new tool for researches directed to define the non- operative treatment of inguinal hernia. METHODS: Hernia sacs were obtained from eleven boys with the ages ranging from two months to five years during operations for inguinal hernia. Samples were prepared and cultivated. Morphologic characteristics of cell populations were examined by light microscopy. Viability was estimated by trypan blue exclusion method. Growing cells were identified via immunohistochemical staining for smooth muscle actin and myosin. RESULTS: Light microscopic images of growing cells displayed characteristic spindle shaped morphology with centrally located round nucleus. When the flasks reached confluence, a hill-valley appearance was observed because of absence of contact inhibition. Cell viability was found more than 95%. Approximately, 80% of growing cell populations was stained positive with actins and myosin antibodies. DISCUSSION and CONCLUSION: In tissue explants of hernia sac, most commonly proliferating cell type is smooth muscle cells. This evidence supports the association of inhibition of PV and the presence of SM. The SM obtained from sacs associated with inguinal hernia may be used for researches directed to establish the non-operative treatment of inguinal hernia

Smooth Muscle Cells are Derived Predominantly from Tissue Explant of Inguinal Hernia Sac

INTRODUCTION: Obliteration of processus vaginalis (PV) has been proposed to result from persistence of smooth muscle which is presented transiently to propel the testis. Sacs associated with inguinal hernia were cultivated to define the cells that are going to proliferate for evaluating the association of inhibition of obliteration of PV and the presence of smooth muscle (SM). The present study does not only provide additional information about the presence of SM in sacs from boys with inguinal hernia, but also provides a new tool for researches directed to define the non- operative treatment of inguinal hernia

Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Objective: Monnose-Binding lectin (MBL) appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome). Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328).Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size

MBL2 Gene Polymorphism and Risk of Vitiligo in Turkish Patients

WOS: 000362717900001Mannose-Binding Lectin (MBL) plays an important role in innate immunity. MBL2 gene polymorphisms affect MBL serum levels. Therefore, this increases the risk of infection and may result in predisposition to autoimmune diseases. The aim of this study was to investigate whether there is an association between the MBL2 gene codon 54 (allele B: rs1800450, c. 161G>A; p. 54Gly>Asp) polymorphism and vitiligo in Turkish patients. One hundred and one patients who were diagnosed with vitiligo and 101 control subjects were included in the study. The DNA was analyzed using the Kbioscience Competitive Allele Specific PCR (KASP) technique. MBL2 gene codon 54 polymorphism frequencies were compared between the two groups. In statistical analysis, the level of significance was set at p<0.05. No significant differences in frequencies of the A allele were observed between the patient and control groups. It was observed at similar frequencies in both groups (p=0.890). The results suggest that the MBL2 gene Codon 54 polymorphism is not associated with an increased risk for the development of vitiligo in Turkish patients.Sakarya UniversitySakarya University [2014-08-06-009]The researchers thank the Sakarya University for funding this research (grant 2014-08-06-009)