Genetics and genetic counseling: Practices and opinions of primary care physicians in Turkey

PURPOSE: The purpose of this study was to assess the educational needs of physicians relating to genetics and genetic counseling in the Denizli region of Turkey. METHODS: Data were collected by questionnaire about physicians' approaches to genetics and genetic counseling. RESULTS: A total of 60 (60.0%) of 100 physicians working in Denizli province returned a questionnaire. Physicians described "their most knowledgeable subjects" in basic genetic information as chromosome abnormalities (41.8%), in genetic disorders as xeroderma pigmentosum (80.0%), and in genetic counseling as directing the parents of and couples with a risk for having a child affected by a genetic disease to an expert or a genetic counseling center (94.8%). Only 20.7% knew the ethical regulations and techniques related to genetic counseling. Physicians thought that they did not have sufficient knowledge about genetics or genetic counseling, and 83.9% would like to attend an educational course. CONCLUSIONS: As a result of this study, a genetics course is planned for physicians so they can actively participate in the prevention and early diagnosis of genetic diseases. ©2007The American College of Medical Genetics

Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from records between 1994 and 2010. We identified 113 DS live births in Denizli for 16 years. The prevalence of DS was 9.07 per 10,000 live births before the year 2000 and 9.90 after 2000. The prevalence did not change significantly. The population in Turkey is still young; the fertility rate is high in women under 35 years old and prenatal screening programs are extensively applied; for these reasons, the prevalence of DS has remained stable during these 16 years

Kronik lenfositik lösemide risk faktörü olarak endotelyal nitrik oksit sentaz gen varyantları

Nitric oxide (NO) plays complicated roles in carcinogenesis. Endothelial nitric oxide synthase (eNOS) gene is responsible for most of the NO produced. For this reason, it was considered that the eNOS gene variants is associated with cancer suspectibility. The aim of this study was to determine whether eNOS variants (G894T and intron 4 VNTR a/b) affect in Chronic Lymphocytic Leukemia (CLL) risk in Turkish patients. This is a prospective single-center crosssectional study in patients with CLL. A total of 60 CLL patients and 100 healthy controls with similar age and sex were included to this study. Two eNOS gene variants (G894T and intron 4VNTR a/b) were analysed with polymerase chain reaction (PCR) and/or restriction fragment length polymorphism (RFLP) methods. In this study, we found that the TT genotype of eNOS G894T variant was significantly associated with an increased risk in patient with CLL compared with control (OR: 0.867, Cl: 0.785-0.957, p= 0.001). There was not any significant difference in the eNOS G894T allele distribution between the groups (p> 0.05). In addition, no significant difference was detected between the CLL patients and healthy controls with respect to the frequencies of genotypes and alleles in intron 4 VNTR a/b variant of eNOS. eNOS gene variants (G894T and intron 4 VNTR a/b) in CLL patients were simultaneously analyzed for the first time in present study. Our study suggest that the eNOS G894T variant may be associated with the development of CLL in the Turkish population. © 2017, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved

Elevated micronucleus frequencies in patients with pleural plaque secondary to environmental exposure to asbestos

We examined genotoxic damage and frequency of micronuclei in people living in the Bekilli and Suller districts of Denizli city who had been diagnosed with pleural plaques as a result of environmental exposure to asbestos. Peripheral blood samples were obtained from 30 volunteer patients 59-86 years old who did not smoke or consume alcohol and who were diagnosed with calcified pleural plaques. We also examined 30 healthy controls with similar features, who also lived in downtown Denizli. Micronucleus frequencies, nuclear division index, and mitotic index were determined. Micronucleus frequency, nuclear division index, and mitotic index were significantly higher in patients who had been exposed to asbestos than in the controls. We conclude that asbestos had a genotoxic effect, resulting in an increase in micronucleus frequency and other changes in patients diagnosed with pleural plaques secondary to asbestos exposure. © FUNPEC-RP

Effects of TNFalpha, NOS3, MDR1 gene polymorphisms on clinical parameters, prognosis and survival of multiple myeloma cases

It is not clear how gene polymorphisms affecting drugs can contributes totheir efficacy in multiple myeloma (MM). We here aimed to explore associations among gene polymorphisms of tumor necrosis factor alpha (TNFalpha), nitric oxide synthesis 3 (NOS3) and multi-drug resistance 1 (MDR1), clinical parameters, prognosis and survival in MM patients treated with VAD (vincristine-adriamycine-dexamethasone), MP (mephalane-prednisolone), autolougus stem cell transplantation (ASCT), BODEC (bortezomib-dexamethasonecyclophosphamide) and TD (thalidomide-dexamethasone). We analyzed TNFalpha, NOS 3 and MDR1 in 77 patients with MM and 77 healthy controls. The genotyping was performed with PCR and/or PCR-RFLP. There was no clinically significant difference between MM and control groups when TNFalpha (-238) and (-857) and MDR1 gene polymorphisms were studied. However, the TNFalpha gene polymorphism (-308) GG genotype (p=0.012) and NOS3 (+894) TT genotype (p=0.008) were more common in the MM group compared to healthy controls. NOS3 (VNTR) AA (p=0.007) and NOS3 (+894) GG genotypes (p=0.004) were decreased in the MM group in contrast. In conclusion, the NOS3 (+894) TT and TNFalpha (-308) GG genotypes may have roles in myeloma pathogenesis

Fluorescence in situ hybridization analysis with subtelomere specific probes (12pter-15qter) showed no differences in deletion patterns between normotensive and essential hypertension

Telomere biology is intimately linked to the genetic/environmental etiology of cardiovascular and metabolic diseases and telomere shortening is emerging as an important biomarker disease. The relationship between subtelomeric deletions and genetic hypertension was examined. Fluorescence in situ hybridization was used to directly assess whether there is a loss or gain of subtelomere copy number. Five subjects with essential hypertension and five normotensive controls were recruited from the outpatient population of the Cardiology Department of the Afyon Kocatepe University Medical School. Fluorescence in situ hybridization was performed using 12p(Tel12) and 15q(Tel15) Cytocell subtelomeric probes on metaphase slides prepared from peripheral blood samples. No differences in subtelomeric region signals between the hypertensive and normotensive groups were found

The effects of diflunisal on oxygen free radicals liver-kidney histologies

Antienflamatuvar analjieziklerden difunisal, ülkemizde yeni yeni kullanıma girmiş ve antienflamatuvar etkisini hangi yolla gösterdiği tam olarak belirlenmemiş, aspirine göre daha az yan etkilere sahip bir salisilik asit türevidir. Bu çalışmada, diflunisalin terapötik dozlarının, başlıca ilaç metabolize edici organlar olan karaciğer ve böbrek histolojisine ve serbest oksijen radikallerine etkilerini belirlemeyi amaçladık. Kırk adet erkek albino sıçan, dört eşit gruba ayrıldıktan sonra, gruplara sırasıyla; 0,5 mİ serum fizyolojik, 3.5,7 ve 14 mg/kg/gün diflunisal dozları, yedi gün süreyle, 12 saatte bir intraperitoneal olarak uygulandı. Karaciğer-böbrek dokularında ve serumda; katalaz aktivitesi ile malondialdehit düzeyleri spektrofotometrik olarak ölçüldü. Karaciğer-böbrek in histolojik yapıları ise ışık mikroskobunda incelendi. Diflunisalin 3.5 mg/kg/gün dozunda, anlamlı bir etki saptanmazken, 7mg/kg/gün dozunda, serbest oksijen radikallerinde artış ve karaciğer dokusunda belirgin, böbrek dokusunda hafif hasar belirlendi. 14 mg/kg/gün difunisal dozunda ise önemli bir radikal artışı ve doku hasarı bulunmadı. Sonuç olarak; difunisal’in serbest radikal inaktive edici etkisinin, sadece 14 mg/kg/gün dozunda ortaya çıktığı ve bu dozun önemli bir doku hasarı oluşturmadığı kanısına varıldı.Diflunisal is a new derivative of salicylic acid Turkey which has less side effects than aspirin. In this study, we aimed to determine the effects of theraputic doses of diflunisal on on oxygen free radicals and liver-kidney histologies. Forty albino male rats were divided into four equal groups, and recived 0.5 ml physiolocig saline and 3.5,7, orl4 mg/kg//day doses of difunisal intraperitoneally, in every 12 hours for seven days. The activity of catalase and the levels of malondialdehyde were measured spectrophotometrically in serum and tissues of liver and kidney. Liver and kidney histologies were also examined with a light microscope. There was no significant effect with 3.5 mg/kg/day dose of difunisal but 7 mg/kg/day dose of difunisal increased the production of oxygen free radicals, and caused evident damage in liver and slight damage in kidney. 14 mg/kg/day dose of difunisal did not increase radicals and tissue damage. We concluded that the inactivating effect of diflunisal on oxygen fre radicals could be produced by only 14 mg/kg/day dose, and this dose not cause a tissue damage

The effects of diflunisal on oxygen free radicals liver-kidney histologies

Antienflamatuvar analjieziklerden difunisal, ülkemizde yeni yeni kullanıma girmiş ve antienflamatuvar etkisini hangi yolla gösterdiği tam olarak belirlenmemiş, aspirine göre daha az yan etkilere sahip bir salisilik asit türevidir. Bu çalışmada, diflunisalin terapötik dozlarının, başlıca ilaç metabolize edici organlar olan karaciğer ve böbrek histolojisine ve serbest oksijen radikallerine etkilerini belirlemeyi amaçladık. Kırk adet erkek albino sıçan, dört eşit gruba ayrıldıktan sonra, gruplara sırasıyla; 0,5 mİ serum fizyolojik, 3.5,7 ve 14 mg/kg/gün diflunisal dozları, yedi gün süreyle, 12 saatte bir intraperitoneal olarak uygulandı. Karaciğer-böbrek dokularında ve serumda; katalaz aktivitesi ile malondialdehit düzeyleri spektrofotometrik olarak ölçüldü. Karaciğer-böbrek in histolojik yapıları ise ışık mikroskobunda incelendi. Diflunisalin 3.5 mg/kg/gün dozunda, anlamlı bir etki saptanmazken, 7mg/kg/gün dozunda, serbest oksijen radikallerinde artış ve karaciğer dokusunda belirgin, böbrek dokusunda hafif hasar belirlendi. 14 mg/kg/gün difunisal dozunda ise önemli bir radikal artışı ve doku hasarı bulunmadı. Sonuç olarak; difunisal’in serbest radikal inaktive edici etkisinin, sadece 14 mg/kg/gün dozunda ortaya çıktığı ve bu dozun önemli bir doku hasarı oluşturmadığı kanısına varıldı.Diflunisal is a new derivative of salicylic acid Turkey which has less side effects than aspirin. In this study, we aimed to determine the effects of theraputic doses of diflunisal on on oxygen free radicals and liver-kidney histologies. Forty albino male rats were divided into four equal groups, and recived 0.5 ml physiolocig saline and 3.5,7, orl4 mg/kg//day doses of difunisal intraperitoneally, in every 12 hours for seven days. The activity of catalase and the levels of malondialdehyde were measured spectrophotometrically in serum and tissues of liver and kidney. Liver and kidney histologies were also examined with a light microscope. There was no significant effect with 3.5 mg/kg/day dose of difunisal but 7 mg/kg/day dose of difunisal increased the production of oxygen free radicals, and caused evident damage in liver and slight damage in kidney. 14 mg/kg/day dose of difunisal did not increase radicals and tissue damage. We concluded that the inactivating effect of diflunisal on oxygen fre radicals could be produced by only 14 mg/kg/day dose, and this dose not cause a tissue damage

Comet assay and applications

AbstractCurrently, humans and other living things can have many genotoxic damages due to reasons such as chemicals, drugs, unfavorable environmental effects. Breaks in the DNA structure due to genotoxic damage can cause mutations, changes in chromosome structure and cancer. Comet assay, also known as a single cell gel electrophoresis (SCGE), is a sensitive, rapid and cheap method used to measure DNA damage and repair at the individual cell level. With this method, cells are called this way because of they appear as comets under a microscope. DNA damage and repair can be detected in each cell type that can be obtained as single cell suspension, with comet assay. In addition to the direct determination of DNA damage in a single cell, it is possible to determine whether all cells in a population suffer from the same amount of damage. Furthermore, this assay may help to predict the heterogeneous response of cells during any treatment, and the tumor response in radiotherapy and chemotherapy treatment protocols. Especially in human biomonitoring studies, it is also used in the investigation of DNA damage in people who exposed to various occupational or accident-related environmental or workplace-related agents. In this review, a general overview of the comet assay and its currently applications to determine the genotoxicity of environmental factors and chemicals are discussed.</div

DNA repair genes and chronic myeloid leukemia: ERCC2 (751), XRCC1 (399), XRCC4-Intron 3, XRCC4 (-1394) gene polymorphisms

To the editor. Chronic myeloid leukemia (CML), which is characterized by the overproduction of mature cells in the granulocytic series, is included in the group of chronic myeloproliferative neoplasms.1 It is the first disease ascertained as due to a specific chromosomal anomaly emerging from a reciprocal translocation between chromosomes 9 and 22. A chimeric gene denominated as the Philadelphia (Ph) chromosome is the product of the fusion of the Abelson oncogene (ABL) from chromosome 9q34 with the breakpoint cluster region (BCR) on chromosome 22q11.2, t (9;22)(q34;q11.2)