6 research outputs found

    Cytokine gene polymorphism frequencies in Turkish population living in Marmara region

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    Objectives Sequence variants in cytokine genes are related to affect cytokine gene levels. In this study, it was aimed to examine eight single nucleotide polymorphisms (SNPs) in five cytokine genes (TNF-alpha, INF-gamma, IL-6, IL10, TGF-beta) for the Turkish population living in Marmara region and to reveal the genetic distance between the study group and other populations. Methods In this study, three-hundred unrelated healthy individuals were involved and all genotyping were performed by using sequence-specific primers PCR (PCR-SSP) method. The SNP data were analyzed for Hardy Weinberg equilibrium fit by calculating expected genotype frequencies and comparing them to the observed values using Arlequin software version 3.1. The genetic distances between the study group and other populations were calculated and a neighbor-joining tree was constructed by PHYLIP. Results The observed genotypes of TNF-alpha (-308), IFN-gamma (+874), TGF-beta (codon 10), and TGF-beta (codon 25) of the subjects were found to be similar with other populations investigated in this study. However, there is a significant frequency difference for IL-6 and IL-10 genotypes between populations. Conclusions The current population study provided more reference values for these polymorphisms and generated a control group to be used in further association studies especially for transplantation, GVHD, autoimmune and malign disease

    Clinical relevance of minor histocompatibility antigens

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    Conference Conference: 10th Eurasian Hematology Oncology Congress Location: Istanbul, TURKEY Date: OCT 08-11, 2019Objective: The minor histocompatibility antigens (MiHA) are epitopes composed of polymorphic essential peptides evoking alloimmune responses limited to a variety of human leukocyte antigen (HLA) alleles. These peptides are allelic cellular proteins and encoded by autosomal genes or by genes of the Y chromosome. MiHAs may be immunogenic or nonimmunogenic in characteristic. They are either ubiquitously expressed in many cells and tissues or restricted to the hematopoietic system cells. Some of these MiHA can also be expressed by tumor cells. Upon hematopoietic stem cell transplantation (HSCT) for hematological malignancies responses to MiHA may develop as graft-versus-host-disease or graft rejection, but can also contribute to the eradication of the tumor cells named graft-versus.-leukemia effect. Our aim was to determine the MiHA distribution in Turkish healthy population and in patients with hematopoietic malignancies whereas some of them were genotypically identical HSCT recipient/donor pair

    İstanbul’da yaşayan Türk nüfusunda 15 STR lokusunda genetik polimorfizmler

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    Objective: Short tandem repeats (STRs) are short sequences of nucleotides that are repeated and distributed all over the genome. These polymorphisms enable investigation of the forensic, ancestral lineage and evolutionary studies in human population. Owing to the historical migration and ethnic groups, it is very valuable to evaluate genetic distances in Turkey. The aim of the present study is to examine the STR data of Istanbul and compare the genetic distances and allele frequency with the previously published data of 27 countries from Europe, Asia, America, Africa and Middle East. Material and Method: Peripheral blood samples were obtained from 400 healthy individuals. DNA samples were amplified using a commercial kit. Multiplex STR-PCR (Applied Biosystems, Foster City, CA, USA) was used and the amplicons were evaluated on an ABI 3130 Genetic Analyzer. Results: Among all loci, D21S11 and D18S51 were the most polymorphic loci. The power of discrimination (PD) ranged from 0.8329 (TPOX) to 0.9722 (D18S51). The combined PD and probability of exclusion (PE) were found to be >0.99999999 and 0.99999671, respectively. Conclusion: In this study, six STR markers were selected to compare the genetic distances and allele frequency of the present results with the results of twenty-seven studies which were published previously. This study indicates that the population in Turkey is an intermediate between Europe, Middle East and Central Asia.Amaç: Kısa ardışık tekrarlar (STR), tekrarlanan ve genomun her yerine dağılan kısa nükleotid dizileridir. Bu polimorfizmler, insan popülasyonunda adli tıp, ata soyları ve evrim çalışmalarının araştırılmasını sağlar. Tarihsel göç ve etnik gruplar nedeniyle Türkiye'deki genetik mesafelerin değerlendirilmesi çok değerlidir. Bu çalışmanın amacı, İstanbul'un STR verilerini incelemek ve aynı zamanda, Avrupa, Asya, Amerika, Afrika ve Orta Doğu'dan 27 ülkenin daha önce yayınlanmış verilerini kullanarak genetik mesafeleri ve alel frekansını karşılaştırmaktır. Materyal ve Metot: Dörtyüz sağlıklı kişiden periferik kan örnekleri toplandı. DNA örnekleri ticari bir kit kullanılarak çoğaltıldı. Multiplex STR-PCR (Applied Biosystems, Foster City, CA, USA) yöntemi kullanıldı ve amplikonlar ABI 3130 Genetic Analyzer’da değerlendirildi. Bulgular: D21S11 ve D18S51 lokusları hepsinin içinde en polimorfik lokuslardı. Ayrımcılık gücü 0,8329 (TPOX) ile 0,9722 (D18S51) arasındaydı. Birleşik ayrımcılık gücü ve dışlama olasılığı sırasıyla >0,99999999 ve 0,99999671 idi. Sonuç: Bu çalışmada, mevcut sonuçların genetik mesafeleri ve allel frekansı açısından altı STR belirteci seçildi ve daha önce yayınlanmış yirmi yedi çalışmanın verileri ile karşılaştırıldı. Sonuçlar Türkiye'deki nüfusun Avrupa, Orta Doğu ve Orta Asya arasında bir ara bölge olduğunu göstermektedir
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