Associations of IL-17 and IL-17 receptor polymorphisms with Behçet's disease in Denizli Province of Turkey.

Although the etiopathogenesis of Behçet's disease is not known, studies conducted in different populations show that it is a multifactorial disease that is thought to develop as a result of the interaction of environmental and genetic factors. IL-17 is thought to induce the neutrophilic inflammation and the tissue damage mediated by immune response in patients. Polymorphisms in the gene region encoding IL-17 and IL-17R molecules may play a critical role in the pathogenesis of the disease and contribute to the elucidation of disease mechanism.

Time estimations by network of beta globin gene cluster haplotypes linked with Hb D-Los Angeles [β121 (GH4) Glu → Gln GAA → CAA] mutation in the world populations.

Background: β-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.

Estimating the age of Hb G-Coushatta [β22(B4)Glu→Ala] mutation by haplotypes of β-globin gene cluster in Denizli, Turkey.

Background: Hb 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.

The IL-8 Gene Polymorphisms in Behçet's Disease Observed in Denizli Province of Turkey.

Behçet'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.

Analysis of the population genetic structure of Hb D-Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation.

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.

Allele frequency of VNTR locus D1S80 observed in Hb D-Los Angeles carrires.

One of our previous studies presented the allele frequencies of D1S80 VNTR locus in province Denizli including the high frequencies of allele 24 and 18. In Denizli province of Turkey, the most common abnormal variant is Hb D-Los Angeles with a frequency of 57.8 % of the total abnormal Hbs.

First observation of Hb Tunis [beta124(H2)Pro>Ser] in Turkey.

Hb Tunis [beta124(H2)Pro>Ser] was reported from Tunisia in 1988. This hemoglobin variant was detected by isoelectric focusing moving just ahead of Hb A. It cannot be identified by standard hemoglobin electrophoresis due to its similar mobility to Hb A.

Beta globin gene cluster haplotypes of the beta thalassemia mutations observed in Denizli province of Turkey.

Objective: Our aim is to identify the beta globin gene cluster haplotypes for the beta thalassemia mutations in Turkey at regional basis. Beta thalassemia mutations included in this study were IVS-I-110 (G>A), FSC 8/9 (+G), IVS-II-1 (G>A), IVS-I-5 (G>C), IVS-I-1 (G>A), IVS-I-6 (T>C) and FSC 8 (-AA).

Methods: We studied 22 unrelated patients with β-thalassemia major and 72 unrelated healthy subjects from our Department's DNA bank.

Allele frequency of VNTR locus D1S80 observed in Denizli Province of Turkey.

The variable numbers of tandem repeats (VNTR) locus D1S80, located on chromosome 1 (1p35-36), has a repeat unit 16 bp in length, and different numbers of these repeat units have been observed for populations of different origins and ethnicity. We used a molecular identification method based on capillary electrophoresis separation to analyze D1S80 locus polymorphism among 74 subjects from Denizli province, Turkey, finding an amplified fragment length size of 379-635 bp. Allele repeat numbers were deduced from these sizes and sequence comparison.

Hb D-Los Angeles [beta121(GH4)Glu>Gln] and Hb Beograd [beta121(GH4)Glu>Val]: Implications for their laboratory diagnosis and genetic origins.

Objective: The aim of this study was to determine the laboratory diagnosis and genetic origins of the hemoglobin (Hb) variants, Hb D-Los Angeles and Hb Beograd observed frequently in our region.

Material And Methods: Hb variants were investigated in one Hb D-Los Angeles and two Hb Beograd families. These families were unrelated with each other.

Rare hemoglobin variant Hb Yaizu observed in Turkey.

Objective: To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs.

Materials And Methods: Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alkaline and acid), HPLC analysis, DNA sequencing and beta globin gene cluster haplotypes were done.

First observation of Hb D-Ouled Rabah [beta19(B1)Asn>Lys] in the Turkish population.

Hb D-Ouled Rabah [beta19(B1)Asn>Lys] is a rare hemoglobin (Hb) beta chain variant reported from Tuareg tribes in Algeria and once from China. It was suggested that Hb D-Ouled Rabah might be specific of Berber-speaking populations. Our report describes the first observation of this hemoglobin variant in the Turkish population.

Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey.

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey.

Hb Beograd [beta121(GH4)Glu-->Val, GAA-->GTA] in the Turkish population.

Hb Beograd [beta121(GH4)Glu-->Val, GAA-->GTA] is a rare variant first reported in Yugoslavia and then in Turkey, Australia and New Zealand. We report two further unrelated cases from Turkey. The importance of identifying Hb Beograd at the molecular level, especially in regions where Hb D-Los Angeles [beta121(GH4)Glu-->Gln, GAA-->CAA] is prevalent, is emphasized.

Genetic origin of Hb D-Los Angeles [beta121(GH4)Glu-->Gln, GAA-->CAA] according to the beta-globin gene cluster haplotypes.

Hb D-Los Angeles (also known as D-Punjab, D-North Carolina, D-Portugal, D-Chicago and Oak Ridge) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta-globin gene. The origin and spread of Hb D-Los Angeles is not known. This is due to lack of information and remains to be elucidated.

HLA-B51 gene and its expression in association with Behçet's Disease in Denizli Province of Turkey.

Behçet's Disease (BD) is a multisystemic inflammatory disorder as a triad of symptoms including recurrent oral and genital aphthous ulceration, and uveitis with unknown pathogenesis. Many researchers have tried to investigate the association of HLA-B51 gene with the BD. We aimed to investigate the association of the HLA-B51 gene and its expression, also polymorphic structure by PCR, RT-PCR and sequence specific oligonucleotide primers and probes in BD patients (n: 35) and control group (n: 50).

Molecular identification of a rare hemoglobin variant, Hb J-Iran [beta77(EF1)His->Asp], in Denizli province of Turkey.

Hb J-Iran [beta77(EF1)His-Asp], a rare hemoglobin variant that does not present health problems, was reported for the first time in the Turkish population in 1986. Our case is the fourth case reported in Turkey and the first case from the Denizli province.

Surface plasmon resonance-based molecular detection of Hb S [beta6(A3)Glu-->Val, GAG-->GTG] at the gene level.

The surface plasmon resonance (SPR) approach, being a relatively novel biophysical method, is used to detect many different targets by biomolecular interaction. The SPR system uses optical and evanescent wave phenomenon. This approach does not need any labels, such as enzymes or isotopes, and the monitored interactions are in real time.

High incidence of Hb D-Los Angeles [beta121(GH4)Glu-->Gln] in Denizli Province, Aegean region of Turkey.

Denizli Province is located in the inner part of the Aegean region of Turkey and is one of the target areas for premarital screening. Here we report the abnormal hemoglobins (Hbs) observed during a premarital screening program in our region. According to our results, Hb D-Los Angeles [beta1211(GH4)Glu-->Gln (GAA-->CAA] (also known as D-Punjab, D-North Carolina, D-Portugal, Oak Ridge and D-Chicago), is the most frequent abnormal Hb in this region.

Angiotensin-converting enzyme I/D polymorphism in Behçet's disease.

Objective: To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme (ACE) gene located on human chromosome 17 and Behçet's disease.

Materials And Methods: Genomic DNA was obtained from 35 Turkish patients diagnosed with Behçet's disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D (insertion and deletion) alleles in intron 16 of the ACE gene in these DNA samples.

Beta-thalassemia mutations in Denizli province of Turkey.

Beta-thalassemia is one of the most common genetic disorders in Turkey as well as in several other Mediterranean countries presenting microcytosis and hemolytic anemia. The city of Denizli is located in the inner part of the Aegean geographical region of Turkey. The beta-thalassemia incidence in Denizli province is in between 2.

The angiotensin converting enzyme I/D polymorphism in Turkish athletes and sedentary controls.

The angiotensin converting enzyme (ACE) gene is located on human chromosome 17 expressing three genotypes within the intron 16 of the related gene structure. These genotypes are classified as I and D alleles which are termed as insertion and deletion, respectively. This study was carried out to identify possible relationships between the insertion/deletion (I/D) polymorphisms and athletic performance in Turkish athletes.