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

Investigation of the roles of the p53 and c-myc genes during the carcinogenic process in the tumor tissues and histopathological normal tumor border tissues of lung, using FISH method

Çalışmamızda radyoterapi ve kemoterapi almamış olan 53 akciğer kanserli hastanın primer tümör dokuları ve tümör dokularına komşu cerrahi sınır dokularındaki genetik değişiklikler, p53 tümör supressör genine ve c-myc onkogenine özgü problar ve bu genlerin üzerinde bulunduğu 17. ve 8. kromozomların sentromerik bölgelerine özgü problarla FISH yöntemi kullanılarak araştırıldı. 53 vakanın 5 1 'ini Küçük hücreli olmayan akciğer kanseri (KHOAK), 2'sini Küçük hücreli akciğer kanseri (KHAK) tümör dokuları oluşturmaktaydı. KHOAK'li 51 vakanın tümör dokularından, yedisinde p53 delesyonu, dördünde c-myc amplifikasyonu, ikisinde monozomi 17, üçünde ise trizomi 8 saptandı, altı vakanın tümör dokusundaysa yüksek oranda poliploidi mevcuttu. KHAK'li iki vakanın tümör dokularından birinde c-myc amplifikasyonu saptandı. 17. ve 8. kromozomun total kayıp yada fazlalıkları ve poliploidiler açısından bakıldığında akciğer tümörlerindeki genetik değişiklikler hem kalitatif hem de kantitatif olarak oldukça heterojenite göstermekteydi. Cerrahi sınır dokularında; iki vakada p53 delesyonu bir vakadaysa c-myc amplifikasyonu saptandı; bu vakalardan bir tanesinde metastaz, diğerinde metastazla birlikte rekürrens, hemde kısa yaşam süresi olması, cerrahi sınır dokularındaki değişikliklerin hastalığın seyri bakımından anlamlı bir bulgu olabileceğini göstermekteydi Gerek p53 delesyonu gerekse c-myc amplifikasyonlarının cerrahi sınır dokularında düşük oranda da olsa saptanmış olması, hastalığın rekürrens ve metastaz açısından takibinde önemli olduğu gibi patolojik evreleme yanında genetik evreleme yapılmasının da önemini işaret etmekteydi P53 delesyonunun düşük evreli vakalarda da görülmesi ve cerrahi sınır dokularında p53 delesyonunun (2/7), c-myc amplifikasyonuna göre (1/5) biraz daha fâzla oranda saptanması p53 patolojilerinin c-myc'ye göre daha erken evrelerde görüldüğü konusunda fikir vermekteydi. Yine çalışmamızın sonuçlan, c-myc amplifikasyonunun akciğer kanserli hastaların yaşam süresini kısaltması yönünde diğer tüm patolojilere oranla çok daha yüksek oranlarda etki sağladığım gösterdi (P<0.01).In this study, genetic alterations on the primary tumoral tissues of 53 patients with lung cancer on which radiotherapy and chemotherapy treatments had not been performed and surgical borders adjacent to these tumoral tissues were analyzed by using FISH method with locus-specific probes special to p53 tumor suppressor gene and c-myc oncogene and centromere-specific probes special to chromosome 17 and chromosome 8 on which these genes are located. 51 of 53 patients had Non Small Cell Lung Cancer (NSCLC) and 2 had Small Cell Lung Cancer (SCLC) according to histopatological examinations. Of these 51 patients with NSCLC, p53 deletions were detected in 7 patients, c-myc amplification in 4 patients, monosomy 17 in 2 patients and trisomy 8 in 3 patients and a high level of polyploidy in tumoral tissues of 6 patients. C-myc amplifications was found in tumoral tissue of one patient with SCLC. When considering total chromosomal losses of chromosome 17 and gains of chromosome 8 and polyploidies, genetical alterations of lung tumors are heterogenous qualitatively and quantitatively. P53 deletion and c-myc amplication were found at surgical borders of two patients and one patient, respectively. According to the fact that one of these cases had metastasis and that the other one had metastasis with recurrency and that their life spans are short, the genetic alterations of surgical border tissues have significance for prognosis of the disease Although both p53 deletion and c-myc amplification have low frequency at surgical border tissues; not only is their detection important for the follow-up of recurrency and metastasis, it is also important for genetical staging and olso for pathological staging. When the presence of p53 deletion in low-stage cases and the higher frequency of p53 deletion (2/7) compared with c-myc amplification (1/5) at surgical border tissues, this gave us an idea that p53 pathologies occur earlier than c-myc amplification of cases with lung cancer has a higher efficiency on shortening of life than all the other genetic pathologies (P<0.01)

Investigation of cyclin D1 (G870A) gene polymorphisms in patients with gastric carcinoma

Objectives: Gastric carcinoma is the second most common cancer in both man and woman in Turkey. Many environmental and individual etiological factors have been investigated including genetic factors. Cyclins which have an important role in cell cycle have been studied, particularly cyclin D1 gene polymorphism has been found to have a role in some cancers. In this study, association between cyclin D1 gene polymorphism and gastric carcinoma was searched in our community.Materials and Methods: Fifty-eight gastric carcinoma patients who had been admitted at Bursa Yuksek Ihtisas Hospital General Surgery Department between 2005 and 2010 and 59 healthy individuals have been included in the study. Samples have been subjected to genetic analysis by PCR-RFLP method in Medical Genetics Department laboratory at Uludag University.Results: GG genotype was found in 16 (28%), AG genotype in 28 (49%), AA genotype in 13 (% 23) in patient group. In control group, numbers was 11 (19%), 31 (54%) and 17 (29%) respectively. The difference of GG, AG and AA genotypes between patient and control groups was not statistically significant. G allele was found 60 (53%) and an allele 54 (47%) in patient group and 51 (45%), and 66 (55%) in control group.Conclusion: Our knowledge, this study is the first to evaluate the relation between gastric carcinoma and cyclin D1 polymorphism in Turkish population. Our results show that there is no any association between gastric carcinoma and cyclin D1 polymorphism in the community which is represented by our study and control groups

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

Angiotensin-converting enzyme gene insertion/deletion polymorphism in patients with pulmonary thromboembolism

The aim of the present study is to investigate the relationship between angiotensin-converting enzyme (ACE) gene polymorphism and pulmonary embolism by comparing the frequency of ACE gene polymorphism between cases diagnosed with pulmonary embolism with that of the control group. The study included 73 patients and 73 healthy subjects as the control group. Isolated DNAs were genotyped using the polymerase chain reaction (PCR) method for the identification of the ACE insertion/deletion (1/D) polymorphism. The genotypes were determined according to the bands observed in the agarose gel electrophoresis. The frequency of ID genotype was 39.7 percent, the frequency of insertion/insertion (II) genotype was 17.8 percent, and the frequency of the deletion/deletion (DD) genotype was 42.5 percent in the patient group. In the control group, the frequency of the II genotype was 21.9 percent, the frequency of the ID genotype was 38.4 percent, and the frequency of the DD genotype was 39.7 percent. There were no statistically significant differences between the patient group and the control group in terms of the frequencies of II, 1D, and DD genotypes (p>. 0.05). The findings of the present study showed no association between ACE gene polymorphism and the risk of developing the pulmonary embolism. Due to the limited number of patients however, these results must be confirmed by further studies incorporating larger series of patients

PARTIAL TRISOMY 9 WITH t(9;21)(q22;q10) TRANSLOCATION DETECTED IN PRENATAL DIAGNOSIS: A CASE REPORT

Trisomy 9p may occur due to either parental reciprocal translocation of chromosome 9 with other chromosomes or de-novo aberrations. Typical craniofacial features, intrauterine developmental delay, cleft lip-palate, micrognathia, cardiac abnormalities and congenital hip dislocation are findings which are expected to be seen in patients with partial trisomy 9pter→q22-32. With the triple testing of a 28–year-old G4P0A3 pregnant woman, performed during her fourth pregnancy, the risk of trisomy 18 was found to be increased. A cytogenetic analysis of the amniotic fluid was performed to establish prenatal diagnosis, and revealed the presence of three chromosome 9 and one chromosome 21. Thereupon, subsequent metaphase FISH analysis showed that one of three chromosome 9 was translocated with one of the chromosome 21 and this was considered to be partial trisomy 9 (pter→q22). As the parents have normal karyotype, this change in the fetus was considered to be de-novo. With the autopsy performed following the termination, the presence of agenesis of the corpus callosum and inlet VSD, which had been observed with previous the fetal USG was confirmed. This case will contribute to knowledge of the clinical evaluation of chromosomal abnormality including both 9p trisomy and chromosome 21 translocation, and also to genetic counseling for these patients

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