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Öğe Analysis of the Population Genetic Structure of Hb D-Los Angeles [?121 (GH4) Glu?Gln GAA?CAA] in Denizli, Turkey; Genetic Diversity, Historical Demography and Estimation of the Mutation Rates Based on Haplotype Variation(Wiley, 2016) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol O.Objective: Understanding the genetic origin of the Hb D-Los Angeles hemoglobin may elucidate population interactions such as movements, migrations, and environmental effects on mutation mechanisms in human biology throughout history. Our study aimed to understand the genetic origin of Hb D-Los Angeles based on haplotype data, observed in the Denizli province of Turkey. Methods: We studied DNA samples from 40 unrelated patients with abnormal hemoglobin Hb D-Los Angeles and 59 unrelated healthy subjects from our DNA bank. Possible associated haplotypes, HWE, genetic diversity and population differentiation, population genetic structure analysis and historical-demographic analysis for the two populations were determined by Arlequin ver. 3.5. Results: Molecular diversity results from the two populations show that both populations are genetically similar as far as development and expansion during the historical period. Historical gene flow results show high gene flow between the two populations. SSD and rg tests failed to reject the null hypothesis of population expansion which is consistent with unimodal distribution. Our estimated tau values show that the average time since the demographic expansion for normal and Hb D-Los Angeles populations ranged from approximately 42,000-38,000 ybp, respectively. Conclusions: Our data suggest that the Hb D-Los Angeles population originated within the normal population in Denizli, Turkey. Our results support the hypothesis that the Hb D-Los Angeles mutation may have originated in the Mediterranean area, independent from other populations such as India and China. The evaluation of such data may contribute valuable information to anthropological, paleoclimatic, archaeological, and phylogeographical approaches to human biology throughout the historical period. (C) 2015 Wiley Periodicals, Inc.Öğe Comparative analysis of hemoglobin S and normal populations based on ?-Globin Like Gene Cluster Haplotype Variation in Denizli, Turkey; Historical- Geographical perspectives and mutation age estimation(Inonu University School of Medicine Department of Biophysics, Malatya, 2017) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol OmerÖz: Aim: Our study aimed to understand the genetic origin of Hb S based on comparative analysis with normal population haplotype data in the Denizli province of Turkey. Material and Methods: We performed data obtained from previously published articles. We studied DNA samples from 12 unrelated patients with heterozygous abnormal hemoglobin S (Hb S) and 59 unrelated healthy subjects from published articles. The association of population genetic parameters such as haplotypes, diversity, differentiation, HWE and demographic analysis for two populations were performed by latest version of the Arlequin software (ver. 3.5). Results: Our results show that normal and Hb S populations have different genetic parameters based on haplotype diversity through the history. The obtained results are highly associated with frequency haplotype [+ ---+ + +] (20.8%) in the Hb S population and the Mediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age parameter of ? values for normal and Hb S populations dated approximately 42,000 to 26,000 ybp, respectively. Conclusions: Historically, two populations exhibit different genetic parameters and unimodal growth distribution. Our results are consistent with the Hb S mutation which occured in this region about 26,000 years ago.Öğe Comparative analysis of hemoglobin S and normal populations based on β-Globin Like Gene Cluster Haplotype Variation in Denizli, Turkey; Historical-Geographical perspectives and mutation age estimation )(2017) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol OmerAim: Our study aimed to understand the genetic origin of Hb S based on comparative analysis with normal population haplotype data in the Denizli province of Turkey. Material and Methods: We performed data obtained from previously published articles. We studied DNA samples from 12 unrelated patients with heterozygous abnormal hemoglobin S (Hb S) and 59 unrelated healthy subjects from published articles. The association of population genetic parameters such as haplotypes, diversity, differentiation, HWE and demographic analysis for two populations were performed by latest version of the Arlequin software (ver. 3.5). Results: Our results show that normal and Hb S populations have different genetic parameters based on haplotype diversity through the history. The obtained results are highly associated with frequency haplotype [+ ---+ + +] (20.8%) in the Hb S population and the Mediterranean haplotype I [+ ----+ +] (14.4%) in the Normal population. According to historical population growth and mutation age parameter of τ values for normal and Hb S populations dated approximately 42,000 to 26,000 ybp, respectively. Conclusions: Historically, two populations exhibit different genetic parameters and unimodal growth distribution. Our results are consistent with the Hb S mutation which occured in this region about 26,000 years agoÖğe Endoplasmic reticulum aminopeptidase-1 polymorphism increases the risk of rheumatoid arthritis(Walter De Gruyter Gmbh, 2022) Akbulut, Ekrem; Yildirim, Tulay; Ozturk, OnurObjectives Endoplasmic reticulum aminopeptidase-1 (ERAP1) polymorphic changes cause autoimmunity. To understand the contribution of ERAP1 to the occurrence of rheumatoid arthritis (RA) disease, we investigated the relationship between ERAP1 and RA. Methods This study was conducted with 201 patients and 171 healthy controls. The rs26653, rs27044, rs27582, rs28096, and rs30187 polymorphic regions of ERAP1 were investigated. The comparison was done with Arlequin software and logistic regression. Haplotypes were analyzed with Phylogenetic Network software. ERAP1 was modeled using Promod3. Topological changes in ERAP1 were analyzed with TM-Score. Results The results showed that rs26653G>C (p=0.002, OR=2.001, 95%CI=1.276-3.137), rs27044C>G (p=0.037, OR=1.583, 95%CI=1.028-2.440), rs27582G>A (p<0.05, OR=0.348, 95%CI=0.194-0.622) and rs30187C>T (p=0.006, OR=1.849, 95%CI=1.191-2.870) polymorphisms are associated with RA disease risk. The relationship between rs28096 polymorphism and RA disease risk could not be determined (p=0.509). The risk haplotype for rheumatoid arthritis was determined as [CGAAT]. It was determined that polymorphisms of ERAP1 cause changes in the entry pocket of substrate and ligand. Conclusions We report a haplotype [CGAAT] that is associated with RA risk from Turkey that has not been described before. These data will make important contributions to elucidating the molecular mechanism of RA.Öğe Estimating the age of Hb G-Coushatta [22(B4)GluAla] mutation by haplotypes of -globin gene cluster in Denizli, Turkey(Wiley, 2018) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol O.BackgroundHb G-Coushatta variant was reported from various populations' parts of the world such as Thai, Korea, Algeria, Thailand, China, Japan and Turkey. In our study, we aimed to discuss the possible historical relationships of the Hb G-Coushatta mutation with the possible migration routes of the world. For this purpose, associated haplotypes were determined using polymorphic loci in the beta globin gene cluster of hemoglobin G-Coushatta and normal populations in Denizli, Turkey. MethodsWe performed statistical analysis such as haplotype analysis, Hardy-Weinberg equilibrium, measurement of genetic diversity and population differentiation parameters, analysis of molecular variance using F-statistics, historical-demographic analyses, mismatch distribution analysis of both populations and applied the test statistics in Arlequin ver. 3.5 software program. ResultsThe diversity of haplotypes has been shown to indicate different genetic origins for two populations. However, AMOVA results, molecular diversity parameters and population demographic expansion times showed that the Hb G-Coushatta mutation develops on the normal population gene pool. Our estimated values showed the average time since the demographic expansion for normal and Hb G-Coushatta populations ranged from approximately 42,000 to 38,000 ybp, respectively. ConclusionOur data suggest that Hb G-Coushatta population originate in normal population in Denizli, Turkey. These results support the hypothesis that the multiple origin of Hb G-Coushatta and indicate that mutation may have been triggered the formation of new variants on beta globin haplotypes.Öğe Evaluation of organ weights and ventricular thicknesses in electrocution related deaths based on autopsy reports: A biophysical approach(Pakistan Medical Assoc, 2023) Kilinc, Evren; Ozturk, Onur; Oruc, Mucahit; Celbis, OsmanObjective: To evaluate autopsy reports of the deaths due to electrocution in terms of body mass index, body surface area, and organ weights with a biophysical perspective. Method: The retrospective study was conducted in Malatya, Turkiye, and comprised autopsy reports of electrocution cases that were obtained from the local branch of the Council of Forensic Medicine related to the period from 2012 to 2019. Organ weights and ventricular thicknesses were compared in terms of body mass index and body surface area. Electrical marks were also evaluated in detail. Data was analysed using SPSS 18. Results: Of the 45 cases, 36(%) were male and 9(%) were female. The overall mean age was 39 +/- 13 years (range: 20-71 years). There were no significant differences in organ weights and ventricular thicknesses in different body mass index groups (p>0.05). The weights of head and heart were significantly different in relation to body surface area (p<0.05), but no significant difference were found for other organs and ventricular thickness (p>0.05). Conclusion: Comparing the organ weights in electrocution autopsies to normal organ weights may help decide the cause of death. During autopsy, electrical marks should be evaluated by considering the characteristics of the electrical current.Öğe The IL-8 Gene Polymorphisms in Behcet's Disease Observed in Denizli Province of Turkey(Taylor & Francis Inc, 2016) Atalay, Ayfer; Arikan, Sanem; Ozturk, Onur; Oncu, Mustafa; Tasli, Mehmet Levent; Duygulu, Seniz; Atalay, Erol OmerBehcet's disease is a multisystemic inflammatory disorder as a triad of symptoms including recurrent oral and genital aphthous ulceration and uveitis with unknown pathogenesis. IL-8, a proinflammatory cytokine, has been found increased in the active stage of BD. DNA samples were obtained from 88 patients with BD and 112 healthy control subjects in Denizli province of Turkey. All genotyping experiments of SNPs in IL-8 gene were performed using polymerase chain reaction-restriction fragment polymorphism. We found that IL-8 -845 T > C and -738 T > A sites are non-polymorphic. There were no differences in the polymorphisms of IL-8 + 396 G/T, + 781 C/T, and + 1633 C/T sites except IL-8 -251 T > A in between patients and healthy controls. Analysis of IL-8 polymorphisms indicates that the distribution of frequencies seems to be associated with -251 T > A and gender, -251 T > A and erythema nodosum, -251 T > A and ocular involvement, + 781 C > T and erythema nodosum, + 396 G > T and pathergy positivity, and + 1633 C > T and papulopustular lesion. We demonstrated that the frequencies of IL-8 haplotypes were significantly different with BD patients than control group. We found that the distribution of IL-8 haplotypes was significantly different with genital ulcers, ocular involvement, positive pathergy test, erythema nodosum, papulopustular lesions, and arthritis with BD patients than healthy control individuals. Our study suggests that IL-8 gene polymorphisms may affect susceptibility to BD and increase the risk of developing disease. In order to confirm and assess the association of IL-8 and other cytokine gene polymorphisms in the pathophysiology of BD, large cohort studies are needed.Öğe Population Data and Internal Validation of the 21 Short Tandem Repeat Loci in Turkish Population(Zoological Soc Pakistan, 2023) Yukseloglu, Emel Hulya; Yonar, Fatma Cavus; Karatas, Omer; Rayimoglu, Gulten; Asicioglu, Faruk; Canpolat, Elif; Ozturk, OnurThe purpose of this study was to identify paternity relations and increase the likelihood success in DNA identification of biological samples found in mass disasters and criminal events by using the 6-dye GlobalFilerTM amplification kit with 21 autosomal STR loci in our laboratory for validation purpose and routine use. In this regard, swab samples from different regions of Turkey (n=350) were collected and studied. The validation of the GlobalFilerTM Amplification Kit was carried out in accordance with the guidelines published by the Scientific Working Group on DNA Analysis Methods (SWGDAM). Our study was conducted to show the efficacy and performance of the kit for sensitivity, specificity, limit of detection, dynamic range, limit of quantification, stochastic threshold study, reproducibility and repeatability, mixture and contamination study parameters. Validation parameters and population genetics data were calculated by using Arlequin v 3.5.2.2 version. According to our results, SE33 (PM=0.014) locus showed the greatest power of discrimination and TPOX (PM=0.132) has the least power of discrimination power in Turkish population. Combined power of exclusion and combined power of discrimination were calculated as 99.99999963% and 99.99999999%, respectively. In addition, allelic frequencies from our study were compared to previously published population data of Iraq, Saud Arabia, China (Han), USA (Cauc), Iran, Afghan, Azerbaijan, Romania, and South Africa. The study revealed that there was a significant difference between Turkish and South Africa (0.1198) population and no difference was observed for Azerbaijan (0.0097) population.Öğe Time estimations by network of beta globin gene cluster haplotypes linked with Hb D-Los Angeles [?121 (GH4) Glu ? Gln GAA ? CAA] mutation in the world populations(Wiley, 2018) Ozturk, Onur; Arikan, Sanem; Atalay, Ayfer; Atalay, Erol O.Background beta-Globin gene cluster haplotypes associated with the Hb D-Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study, we have identified genetic relationships and formation periods between the haplotypes reported in the world regarding the Hb D-Los Angeles. Methods We comparatively analyzed the RFLP (restriction fragment length polymorphism) data in Denizli region and world populations using Arlequin 3.5 statistical software program. The data obtained from the Arlequin software were then entered into the Phylogenetic Network software to calculate the age estimates and to discover possible links between the haplotypes. Results We observed the frequencies of the beta-globin gene haplotypes for the seven polymorphic restriction sites around the world and calculated the estimated time of haplotypes using Network software on the basis of ancestral haplotypes. We performed the phylogenetic network analysis of the haplotypes linked with Hb D-Los Angeles mutation by processing the data of frequency and age estimations with Network software. Conclusion Our period of time results suggests that HAP1 was formed before modern human migration to Asia and/or independent origin of the Hb D-Los Angeles mutation from other populations. Considering that the population in Denizli region started the Hb D-Los Angeles mutation past about 40,000 years ago, it can be said that HAP1, HAP15, and HAP21 belong to the gene pool with an external effect. Our period of time results of HAP6 is compatible with published dating results.Öğe Transcription factor 7-like 2 (TCF7L2) gene polymorphisms are strong predictors of type 2 diabetes among nonobese diabetics in the Turkish population(Tubitak Scientific & Technological Research Council Turkey, 2017) Erkoc Kaya, Dudu; Arikoglu, Hilal; Kayis, Seyit Ali; Ozturk, Onur; Gonen, Mustafa SaitBackground/aim: Type 2 diabetes (T2D) is a multifactorial disease, determined by environmental and genetic factors. Currently, the transcription factor 7-like 2 (TCF7L2) gene shows the strongest association with T2D. In this study, we investigated whether TCF7L2 gene polymorphisms are associated with T2D in a Turkish population. Materials and methods: Using PCR-RFLP and PCR-SSCP, we genotyped six intronic polymorphisms in the TCF7L2 gene, commonly associated with T2D, in 169 individuals with diabetes and 119 healthy controls. Results: We found that rs7903146 C -> T substitution in intron 3 (OR: 1.9, P = 0.005) and rs12255372 G -> T substitution in intron 4 (OR: 2.1, P = 0.002) were significantly associated with T2D while other SNPs were not associated (P > 0.05). We determined no association between TCF7L2 gene polymorphisms and fasting glucose, fasting insulin, HbA1c, or HOMA-IR levels (P > 0.05), except for rs7903146 C -> T substitution, which was significantly associated with the fasting glucose level (P = 0.003). Conclusion: Our results indicate that, in the Turkish population, the T allele of the rs7903146 (C -> T) and rs12255372 (G -> T) polymorphisms in the TCF7L2 gene is an independent risk factor for the development of T2D.