Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.

Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG)mTn-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.     

Thalassaemia in Cyprus

Frequencies of the thalassaemias in Cyprus were examined by a survey of hospital inpatients and haematological investigations of adult and newborn population samples. The data indicate that 15% of the Greek and Turkish Cypriots are carriers of beta-thalassaemia genes, while 10% of the population carry alpha-thalassaemia genes. These are the highest frequencies of thalassaemia genes found today in any Caucasian population.     

Chromium-51 labeling of sheep red blood cells.

The failure of sheep red blood cells (RBCs) labeled with Chromium-51 (Cr-51) using the ascorbic acid technique to act as a suitable intravascular marker of blood volume in a septic sheep model prompted us to investigate the technique of radiolabeling sheep erythrocytes with this isotope. Consequently, we studied thirteen sheep in which the labeling efficiency of Cr-51 as sodium chromate and hemoglobin typing was determined for each animal. Mean Cr-51 labeling efficiency of sheep RBCs was 67.5% (n = 13). Although 5 of the 13 sheep were discovered to have two types of hemoglobin (Hb) as determined by electrophoresis, overall labeling efficiency of sheep RBCs was determined to be independent of the type of hemoglobin present. However, when two types of Hb were present (Hb-A and Hb-B), Cr-51 had a higher affinity for Hb-B (80%) than Hb-A (20%) even though both Hb types are present in similar proportions (Hb-A = 53%, Hb-B = 46%). The results of this study indicate that sheep RBCs express a lower labeling efficiency for Cr-51 than do human RBCs and that Cr-51 has a higher affinity for Hb-B than for Hb-A when both hemoglobin types are present. This difference is noteworthy when interpreting Cr-51 RBC data in experimental sheep models. Furthermore, caution should be exercised when extrapolating established human protocols to animal models.     

Linguistic capital: Language as a socio-economic resource among Kurdish and Arabic women in Turkey

Data from the 1998 Turkish Demographic and Health Survey are used to gain insight into the characteristics of the non-Turkish speaking individuals in Turkey and in the socio-economic consequences of not speaking Turkish for them. The very large majority of non-Turkish speaking individuals turn out to be Kurdish and Arabic women, living in East Turkey and in the countryside. The data indicate that of the married women aged 15–49 in Turkey, about 4 per cent, or one in 25, is not able to speak Turkish. More than 90 per cent of these women has not finished primary education. Regarding their social background, our results suggest that they were more under the influence of traditional cultural values, that their access to the public domain was limited, and that they were more heavily controlled by their family. Regarding the consequences of not speaking Turkish, we found the non-Turkish speaking women to be less employed in the formal economy, to have husbands with lower educational levels and occupations and to have lower family incomes. This result is in line with the predictions of linguistic capital theory.     

Functional behaviour of dilute solutions of Hb-Kempsey: beta 99 (G-1) Asp--Asn.

The authors report that a diluted solution of Hb-Kempsey, beta 99 (G-1) Asp-Asn, can be chromatographically separated from the coexistent Hb-A and functionally examined if progressively depleted in O2 by bubbling pure nitrogen in the solution. Next, at fixed times, the O2 saturations of Hb are compared with the pO2s measured. Hb-Kempsey has a p50 of 1 torr, with an n-value of 1 and a Bohr effect of -0.2. Normal Hb-A of the same patient, examined with identical methods, presents: p50 = 4.5 torr; n = 2.7; Bohr effect = -0.412. Therefore, Hb-Kempsey is strongly hyperaffinic, does not display any heme-heme interaction, and has a half-normal Bohr effect.     

Incidence and genetic diversity of raspberry bushy dwarf virus (RBDV) in Rubus spp. in Turkey

Raspberry bushy dwarf virus (RBDV), recently renamed to Idaeovirus rubi, is one of the most common viruses infecting Rubus species worldwide but there is still a limited number of genome sequences available in the GenBank database and the majority of the sequences include partial sequences of RNA-1 and RNA-2. The distribution and incidence of RBDV in main raspberry and blackberry growing provinces in Turkey were monitored during 2015–2019 and 537 Rubus spp. samples were tested by both DAS-ELISA and RT-PCR. Among the tested samples, 36 samples tested positive for RBDV by DAS-ELISA and 67 samples by RT-PCR. There was relatively low nucleotide diversity among the Turkish isolates. Turkish isolates shared 93%–97.7%, 84.3%–98.9%, and 85%–99.2% nucleotide sequence identities with available sequences in the GenBank, in partial RNA-1, movement protein (MP) and coat protein (CP) genes, respectively. In the phylogenetic tree constructed for RNA-1, MP, and CP sequences, all Turkish raspberry isolates were clustered in a distinct clade. However, the blackberry isolates showed considerable variation in nucleotide sequences and were placed in three distinct groups. The divergent blackberry isolates showed high variability in MP (84.5%–89.3%) and CP (85.5%–89.7%) regions and were placed in a distinct group. The rest of blackberry isolates clustered together with sweet cherry RBDV isolates adjacent to the grapevine clade or together with raspberry isolates. The comparative analysis conducted on three RNA segments of RBDV highlighted the high sequence diversity of Turkish RBDV isolates. This study also emphasizes the importance of regular monitoring of RBDV infections in Turkey, with special regard to those Rubus spp. and grapevine accessions employed in conservation and selection programmes. In particular, the presence of new RBDV genetic variants and infection of Rubus species must be taken into account to choose a correct detection protocol and management strategy.     

On the genus SuniusStephens, 1829 of Turkey. VI. A new micropterous species and distribution of the genus (Coleoptera: Staphylinidae: Paederinae)

A new species of the genus Sunius Stephens, 1829 is described from Konya province in Anatolia and illustrated: Sunius yamani sp. n. Additional records of six species of Sunius from Turkey are reported. A total of 39 species are now known from Turkey, 35 of them are endemic. Distribution maps are given for all Turkish members of the genus Sunius.     

DNA sequences regulating human beta globin gene expression.

Human delta globin is expressed at approximately 1-2% of the level of human beta globin in erythroid cells despite the marked homology between these two globins. To determine the DNA sequences responsible for this effect, delta and beta globin genes and fusion products of these genes constructed in vitro were transfected and expressed in HeLa cells. The results indicate that when the small intervening sequence of the beta gene (beta IVS 1) is replaced by delta IVS 1, expression of the chimeric gene is the same as that of the normal beta globin gene. By contrast, when the large intervening sequence of the beta gene (beta IVS 2) is replaced by delta IVS 2, expression of the chimeric gene is markedly reduced. These results suggest that there are signals within IVS 2 of the delta and beta genes which affect their relative expression.     

Haemoglobinopathy survey in an Eti-Turk village.

Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S+alpha-thalassaemia and 7 Hb S with elevated Hb A'2 combinations were found. The beta-thalassaemia gene prevalence was 0.0377. Hb A2 was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among males.     

Phylogeography of the Turkish brown trout Salmo trutta L.: mitochondrial DNA PCR‐RFLP variation

In the present study, mitochondrial DNA polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) assay was used to assess the phylogenetic and phylogeographic relationships among 27 brown trout Salmo trutta populations from Turkey. The complete NADH 5/6 region and a second segment comprising the cytochrome b gene and D‐loop of mtDNA amplified by PCR were digested with six and five restriction enzymes, respectively. A total of 27 haplotypes were observed and divided into three major phylogenetic assemblages, namely Danubian (DA), Adriatic (AD) and a newly proposed Tigris (TI) lineage. The timing of the net nucleotide divergence between the major lineages along with the geological history of Turkey suggested pre‐Pleistocene isolation of the Turkish brown trout and provided evidence that Turkey could be considered as a centre of diversification for these lineages. The average haplotype diversity (0·1397) and the nucleotide diversity (0·000416) within populations were low in comparison to the observed interpopulation nucleotide diversity (0·021266). PCR‐RFLP analysis showed that most of the mtDNA sequence variation found in the Turkish brown trout populations was imputable to differences among lineages. On the other hand, there was also an obvious relationship between geographical distribution of the populations and their clustering. The present study showed that brown trout populations from Turkey are highly divergent and mainly have a unique genetic profile that could be used for conservation and management purposes.     

Evaluation of Factor V G1691A,prothrombin G20210A,Factor XIII V34L,MTHFR A1298C,MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey

Cardiovascular disease (CVD) risk factors, such as arterial hypertension, obesity, dyslipidemia or diabetes mellitus, as well as CVDs, including myocardial infarction, coronary artery disease or stroke, are the most prevalent diseases and account for the major causes of death worldwide. In the present study, 4,709 unrelated patients subjected to CVD panel in south-east part of Turkey between the years 2010 and 2013 were enrolled and DNA was isolated from the blood samples of these patients. Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 ?675 4G/5G) found in CVD panel. The prevalence of these mutations were 0.57, 0.25, 2.61, 13.78, 9.34 and 24.27 % in homozygous form, respectively. Similarly, the mutation percent of them in heterozygous form were 7.43, 3.44, 24.91, 44.94, 41.09 and 45.66 %, respectively. No mutation was detected in 92 (1.95 %) patients in total. Because of the fact that this is the first study to screen six common mutations in CVD panel in south-east region of Turkey, it has a considerable value on the diagnosis and treatment of these diseases. Upon the results of the present and previous studied a careful examination for these genetic variants should be carried out in thrombophilia screening programs, particularly in Turkish population.     

Genetic analysis of Turkish martens: Do two species of the genus Martes occur in Anatolia?

Stone marten (Martes foina) and European pine marten (M. martes) occur in western Eurasia. Current distributions of martens within Turkey and phylogenetic relationships among the Turkish and other populations of the two species within Eurasia remain relatively unknown. In this study, we aimed to determine genetic diversity within Martes populations inhabiting Turkey and to reveal the phylogenetic relationships among the Turkish and conspecific populations of the two marten species, using mitochondrial cytochrome b (CytB) sequences. Twenty‐four (24) haplotypes were identified among 86 marten samples collected across Turkey, including 23 novel haplotypes. Genetic distances among the Turkish haplotypes ranged from 0.1% to 0.8%, with an average of 0.3%. The 24 Turkish haplotypes were analysed together with those of conspecific populations deposited in GenBank. Phylogenetic (Bayesian Inference, maximum likelihood, neighbor‐joining) and network analyses revealed that all of the Turkish samples belonged to M. foina and that samples of M. martes were not encountered. Haplotypes of M. foina were divided into five haplogroups. The haplogroup including the two Chinese samples differed markedly from other the haplogroups. The remaining haplogroups contained samples from both the Turkish and European populations. We found that there was a genetically close relationship between the Turkish and the European stone marten populations. As a result of this study, M. martes may not be distributed in the Anatolian part of Turkey, possibly due to a barrier effect of two straits (Dardanelles and Bosporus) and the Caucasus Mountains. On the other hand, M. foina is distributed in both the Anatolian and Thracian parts of Turkey. Our results suggest that Turkey was likely one of the refuges for M. foina during Pleistocene glacial periods and is one of the centres of distribution of stone marten for Europe and the surrounding regions.     

Trans-Kemalism: the politics of the Turkish state in the diaspora

Abstract

In contrast to the huge amount of research on Turkish migration and migrants, the diasporic politics of the Turkish Kemalist state constitutes a neglected research subject in the scholarship on Turkish diaspora. How does the Turkish state reach out to its nationals and expatriates abroad? In what ways does the Turkish Republic seek to make Islam (as it does in Turkey) into an instrument legitimizing its politicizing and mobilizing enterprises? To explore these questions, this article investigates the long-distance Kemalism engaged in by the Turkish state to Turkify and secularize its nationals in the diaspora, using its activities in Australia as its case study. In sketching out trans-Kemalism's dimensions, the analysis directs attention to the intimate relationship between the political and religious fields of transnationalism manufactured by the state. The paper concludes that the intense political polarization in Turkey in the present makes the future of trans-Kemalism abroad somewhat uncertain.     

Functional properties of Hb-J Calabria, beta 64 (E8) Gly-Asp

A young male from Apulia region (Southern Italy), heterozygous carrier of Hb-J Calabria (beta 64(E8) Gly-Asp), was described here. He showed mild polycythemia, and his whole blood dissociation curve for oxygen was clearly left-shifted, with a decreased p50. But these characteristics were not only due to the hyperaffinity of the abnormal pigment, accounting for about one third of the total Hb; in fact, also Hb-A, the main pigment present, had relative hyperaffinity. Nevertheless, this subject was completely symptomless, suggesting that the abnormal Hb was almost completely excluded from respiratory exchange and traveled always oxygenated also in the venous-capillary bed. However, the level reached by Hb-A furnished a satisfactory functional compensation against tissue hypoxia.     

Failed promises: economic integration, bureaucratic encounters, and the EU-Turkey Customs Union

European integration is based upon the promise to bring prosperity by creating economic and social equilibrium among member states and its regions via integrationist policies jointly managed by states and the institutions of the EU. As one common market initiative for greater economic integration in the wider region, goods circulate without tariff and customs duty barriers in the EU’s common customs area. Turkey, not an EU member, has been in this common market since 1996. The EU-Turkey Customs Union, which promised to bring deeper economic and political integration through eventual Turkish membership, represents Turkey’s aspirations to move from the periphery of Europe into its core. As an anthropological contribution to investigations of advanced European capitalism, this paper examines fundamental conflicts of interest between the EU and Turkey and locates them in their unequal power relations and in the disjuncture of each side’s overall objectives from economic integration. Most importantly, it shows that these interest conflicts have ramifications at the individual bureaucratic level and in daily bureaucratic practice. Dramatic expressions of Turkish state power, which are initially geared toward balancing out power inequities, exacerbate Turkish and EU officials’ failures to maintain at least a facade of mutually sustainable interests. Interpreted by EU officials as Turkish bureaucratic inertia, such disintegration of interests has implications for ongoing economic integration and membership negotiations between the two parties, with Turkish officials experiencing loss of control. The paper calls for a critical political economy that pays due attention to the cultural settings in which the former is embedded.     

Deafness-related plasticity in the inferior colliculus: gene expression profiling following removal of peripheral activity

The inferior colliculus (IC) is a major center of integration in the ascending as well as descending auditory pathways, where both excitatory and inhibitory amino acid neurotransmitters play a key role. When normal input to the auditory system is decreased, the balance between excitation and inhibition in the IC is disturbed. We examined global changes in gene expression in the rat IC 3 and 21 days following bilateral deafening, using Affymetrix GeneChip arrays and focused our analysis on changes in expression of neurotransmission-related genes. Over 1400 probe sets in the Affymetrix Rat Genome U34A Array were identified as genes that were differentially expressed. These genes encoded proteins previously reported to change as a consequence of deafness, such as calbindin, as well as proteins not previously reported to be modulated by deafness, such as clathrin. A subset of 19 differentially expressed genes was further examined using quantitative RT-PCR at 3, 21 and 90 days following deafness. These included several GABA, glycine, glutamate receptor and neuropeptide-related genes. Expression of genes for GABA-A receptor subunits beta2, beta3, and gamma2, plus ionotropic glutamate receptor subunits AMPA 2, AMPA 3, and kainate 2, increased at all three times. Expression of glycine receptor alpha1 initially declined and then later increased, while alpha2 increased sharply at 21 days. Glycine receptor alpha3 increased between 3 and 21 days, but decreased at 90 days. Of the neuropeptide-related genes tested with qRT-PCR, tyrosine hydroxylase decreased approximately 50% at all times tested. Serotonin receptor 2C increased at 3, 21, and 90 days. The 5B serotonin receptor decreased at 3 and 21 days and returned to normal by 90 days. Of the genes tested with qRT-PCR, only glycine receptor alpha2 and serotonin receptor 5B returned to normal levels of expression at 90 days. Changes in GABA receptor beta3, GABA receptor gamma2, glutamate receptor 2/3, enkephalin, and tyrosine hydroxylase were further confirmed using immunocytochemistry.     

Hemoglobin types of gibbons and leaf-monkeys

Electrophoretic patterns of hemoglobin were observed in 61 samples from gibbons and in 29 samples from leaf-monkeys. In gibbons, three hemoglobin types, involving two main molecules with a minor component, were found. The two gibbon hemoglobins were presumed to differ in their corresponding beta chain. It is characteristic that each of the three hemoglobin types was present in three different species of gibbons. In three species of leaf-monkey, only one hemoglobin was observed, showing electrophoretic mobility very similar to human Hb-A.     

<Emphasis Type="Italic">MEFV</Emphasis> heterogeneity in Turkish Familial Mediterranean Fever patients

Turkey is one of the few countries in the world where Familial Mediterranean Fever (FMF), an autoinflammatory disease caused by mutations in MEFV, the gene encoding pyrin, is not rare. Many interesting studies regarding the genetics of Familial Mediterranean Fever in Turkey have been already published. Despite that different MEFV genetic profiles have been revealed for Turkish FMF patients, deriving from different regions of Turkey, a systematic population genetics analysis has not been carried out yet. The present study aims to investigate the population genetics of MEFV in Turkish FMF patients so as to additionally facilitate the clinical interpretation of individualized genetic data. All relevant studies have been recruited by searching PubMed with the terms “MEFV”, “FMF”, and “Turkey”. Seven of them, including 3,061 FMF patients, contained all necessary data concerning allelic and genotypic frequencies of the 4 commonest MEFV mutations in Turkey (M694V, V726A, M680I, E148Q). From all 6,122 MEFV alleles analyzed, the M694V mutation was recognized in 15.6–52.2% (mean 29.3%), the V726A in 1.5–9.7% (mean 4.8%), the M680I in 1.5–15.5% (mean 7.6%), and the E148Q in 3.2–13.9% (mean 5.5%). Unidentified mutations ranged from 0–42.9% (mean 16.8%). No mutations were found in 0–54.5% (mean 36.0%) of the patients. The allelic and genotypic frequencies of the most frequent mutation (M694V) showed aberration of the Hardy–Weinberg law for all 7 populations studied. By application of the Arlequin 2.0 population genetics software, the Fixation index (F _ST) was found to be 0.09994, thus demonstrating that the observed variability is mainly within (90.006%) and not among (9.994%) populations (P < 0.00001). Moreover, the global test of differentiation demonstrated that every population differs from each other (P < 0.00325). Finally, the Ewens–Watterson test of selective neutrality yielded to statistical significance in only 3 populations. In conclusion, Turkish FMF patients are characterized by an increased genetic heterogeneity, explained by the intrapopulation differentiation. Thus, the regional origin should be regarded as a determining factor in the diagnosis of FMF in Turkish patients.     

TAP1 and TAP2 gene polymorphisms in childhood cystic echinococcosis

The incidence of cystic echinococcosis (CE) due to Echinococcus granulosus is as high as 2000–2500 patients per year in Turkey. Whether genetic characteristics of the Turkish population cause a tendency to the disease is currently unknown. We aimed at studying the role of TAP gene polymorphisms in Turkish children with cystic echinococcosis. For an overview of allelic distribution of TAP1 and TAP2 genes, genotypes of 85 patients with CE and 100 controls were studied. To determine the genotype–phenotype correlation, 81 of the patients whose clinical data were available were analyzed. For TAP1-637, Asp/Gly heterozygosity was significantly more prevalent in CE patients than in controls (20 vs. 4%, odds ratio 6.0), while Gly/Gly homozygosity was less frequent (5 vs. 14%). For TAP2-379, Ile/Val heterozygosity was significantly more prevalent in CE patients than in controls (14 vs. 1%, odds ratio 16.27), while Ile/Ile homozygosity was less frequent (13 vs. 25%). TAP1-637 and TAP2-379 polymorphisms may have a role in causing genetic tendency for CE in children. The data may reflect the genetic properties of the Turkish population or may reveal the minor role of TAP gene polymorphisms in CE.