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Öğe Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele(2012) Karaca E.; Kalkan S.; Onay H.; Aykut A.; Coker M.; Özkınay F.Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.Öğe A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow [Kemik ilig¨inde ekstra kromozom 5 ve x'e ilave philadelphia kromozomu içeren akut lenfoblastik lösemi olgusu](2010) Durmaz B.; Durmaz A.A.; Karaca E.; Saydam, G..; C¨og¨ulu O.; Özkınay F.We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22)(q34;q11) in the bone marrow. A patient with additional chromosomes X and 5 with a Philadelphia chromosome has not been reported previously. However, no abnormal karyotype was obtained from the lymphocytes in our patient, and he did not have the characteristics of Klinefelter syndrome. He achieved a complete remission with IDA-FLAG and dasatinib therapy. The mechanism of trisomy 5 or any other chromosomal aneuploidy in the pathogenesis of leukemogenesis remains unclear. Further studies involving the genes affected by this karyotype and their products may lead to strategies to further increase the understanding of drug-resistant acute lymphoblastic leukemia and may represent the next frontier in the targeted therapy of those patients.Öğe Cleidocranial dysplasia with new additional findings [2](2004) Cogulu O.; Munanoglu D.; Karaca E.; Onay H.; Özkınay F.[No abstract available]Öğe Comparison of CD38, ZAP70 and hTERT expression with known prognostic markers in patients with chronic lymphocytic leukemia during five-year follow- up period [Kronik lenfositik lösemili hastalarda bilinen prognostik belirteçlerin cd38 zap70 ve htert ekspresyonları ile beş yıllık takip döneminde karşılaştırılması](UHOD - Uluslararasi Hematoloji Onkoloji Dergisi, 2014) Vural F.; Karaca E.; Soyer N.; Gunduz C.; Sahin F.; Kosova B.; Saydam, G..; Cagirgan S.; Tombuloglu M.; Özkınay F.; Cogulu O.Chronic Lymphocytic Leukemia (CLL) is the most common leukemia in adults. Recently CD38, ZAP70 and hTERT activity have been studied for the evaluation of the prognosis of CLL besides clinical staging and lymphocyte doubling time. There are inconsistent results regarding these markers for the evaluation of the prognosis in CLL patients. In this study CD38, ZAP70 and hTERT values in CLL patients were measured to make comparisons between each other and known prognostic factors. Thirty CLL patients who were included in the study were followed up for 5 years after the initial diagnosis. The mean hTERT value in CLL and control cases were 1.00±1.31 and 3.89±3.58, respectively (p< 0.05). The mean CD38 and ZAP70 were 6.20±7.60 and 5.51±5.67, respectively. No significant association was detected between CD38, ZAP70 and hTERT activity. There was no correlation between those parameters and known prognostic parameters such as Rai staging, peripheral lymphocyte levels, age, and sex of the patients, beta-2 microglobulin and reply to treatment in CLL. The overall five-year survival rate in CLL patients is 96.7%. The overall five-year survival rate in CLL patients is 96.7%. In conclusion, further studies including larger series of patients with longer follow-up periods are recommended. © 2014, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved.Öğe Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever (Clinical Rheumatology, (2019), 38, 3, (635-643), 10.1007/s10067-017-3914-0)(Springer London, 2019) Hortu H.O.; Karaca E.; Sozeri B.; Gulez N.; Makay B.; Gunduz C.; Atik T.; Tekin I.M.; Unsal S.E.; Cogulu O.The name of the last author of this article was incorrectly presented as “Cogulu Ozgur” this should have been “Ozgur Cogulu”. © 2019, International League of Associations for Rheumatology (ILAR).Öğe Detection of trisomy 21 in a fetus during the investigation for Tay-Sachs disease [2](2004) Alpman A.; Bora E.; Karaca E.; Cankaya T.; Onay H.; Cogulu O.; Gunduz C.; Kleijer W.J.; Özkınay F.[No abstract available]Öğe Does mannose-binding lectin have a role in adult turkish patients with nasal polyposis?(2012) Eren E.; Midilli R.; Karaca E.; Onay H.; Karci B.; Özkınay C.Objective. Mannose-binding lectin is an important component of innate immunity; it initiates the lectin pathway of complement activation critical for innate immunity. Failure of local innate defenses may result in defective responses that lead to the persistent carriage of microorganisms or ongoing inflammation. This study investigated the role of mannosebinding lectin levels and the frequency of the 6 functional mannose-binding lectin polymorphisms in Turkish individuals with nasal polyposis. Study Design. A case-control study. Setting. University hospital. Subjects and Methods. Fifty-one patients with nasal polyposis and 53 healthy controls were enrolled. Serum mannosebinding lectin levels were obtained by enzyme-linked immunosorbent assay (ELISA) using the mannose-binding lectin oligomer ELISA kit. Mannose-binding lectin 2 genotyping was performed by isolating the genomic DNA from leukocytes. Results. Mean mannose-binding lectin levels were 1693.2 and 1887.8 in the patient and control group, respectively. Although mannose-binding lectin levels were lower in the patient group, the difference was not statistically significant (P > .05). No overall association was observed between the mannosebinding lectin genotype and susceptibility to nasal polyposis (95% confidence interval = 0.716-4.389, odds ratio = 1.773). The mutant allele frequencies of the 3 structural polymorphisms did not differ significantly between the nasal polyposis patients and the controls (P = .659). Conclusions. Mannose-binding lectins are not involved in the pathogenesis of nasal polyposis in adult Turkish patients, but additional research is needed for further comment. © 2012 American Academy of Otolaryngology - Head and Neck Surgery Foundation.Öğe Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl(2007) Cogulu O.; Gunduz C.; Karaca E.; Onay H.; Superti-Furga A.; Özkınay F.Vertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature.Öğe The effect of interleukin-10 gene promoter polymorphisms on early-onset coronary artery disease [Erken başlangi{dotless}çli{dotless} koroner arter hastali{dotless}gi{dotless}nda interlökin-10 gen promotor polimorfizmlerinin etkisi](2011) Karaca E.; Kayikçioglu M.; Onay H.; Gündüz C.; Özkınay F.Objective: We assessed the association between interleukin-10 (IL-10) -1082G/A and -592C/A polymorphisms, and coronary heart disease (CHD). Methods: A cross-sectional, observational study included 86 patients (mean age 43.36±4.930 years) diagnosed to have CHD and 88 healthy controls (mean age 47.07±8.135 years). IL-10 -1082G/A and -592C/A polymorphisms were analyzed using restriction fragment length polymorphism (RFLP) and agarose gel electrophoresis methods in both patient and control groups. Genotype distributions of the polymorphisms between CHD patients and controls were assessed by Chi-square analysis. Results: The genotype distribution of the -1082 G/A polymorphism was not different in premature CHD patients (GG: 38.3%; GA: 51.1%; AA: 10.6%) and controls (GG: 43.1%; GC: 43.1%; CC: 13.8%) (p=0.57). The prevalence of the A allele at -1082G/A polymorphism was 36.6% in patients and 35.3% in controls. Both allele and genotype frequencies of -592C/A polymorphism did not also differ significantly between patients with CHD and controls. We did not observe relationships between polymorphism-specific haplotypes and adverse angiographic and clinical outcomes. We have observed a significant difference of IL-10 -592C/A allelic frequency (OR=2.00 95% CI=0.9434-4.2579) between the younger CHD patients (<45 years, Group 2) and matched controls. Conclusion: Our study suggests that IL-10-592C/A polymorphism may play a role in susceptibility to CHD in younger patients. © 2011 by AVES Yayi{dotless}nci{dotless}li{dotless}k Ltd.Öğe Erratum: The genotoxic effect of radiofrequency waves on mouse brain (Journal of Neuro-Oncology (2012) 106 (53-58) DOI: 10.1007/s11060-011-0644-z)(2012) Karaca E.; Durmaz B.; Aktug H.; Yildiz T.; Guducu C.; Irgi M.; Koksal M.G.C.; Özkınay F.; Gunduz C.; Cogulu O.[No abstract available]Öğe The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases(2008) Cogulu O.; Kosova B.; Gunduz C.; Karaca E.; Aksoylar S.; Erbay A.; Karapinar D.; Vergin C.; Vural F.; Tombuloglu M.; Cetingul N.; Özkınay F.The aim of this study is to evaluate (1) the human telomerase-specific reverse transcriptase (hTERT) mRNA expression in childhood acute leukemia, (2) the association between the hTERT mRNA expression with the patients' characteristics and the known prognostic factors and (3) the correlation of the patients' survival with the initial hTERT mRNA value at diagnosis. A total of 40 newly diagnosed patients consist of children [31 cases with acute lymphoblastic leukemia (ALL) and 9 cases with acute myeloblastic leukemia (AML)] were prospectively included into the study. The online real-time reverse- transcriptase PCR was used for the quantification of hTERT in bone marrow (BM). All cases were re-evaluated for their survival after 2 years. The highest hTERT mRNA value was observed in Pre B-cell ALL patients followed by B-cell ALL, T-cell ALL and AML. The hTERT mRNA relative ratio difference between the ALL and AML groups was significant. No significant association was found when hTERT mRNA expression was evaluated in relation with the hematological parameters (except hemoglobin level), blast percentages and the risk groups. No significant difference was determined between the rate of complete remission and relapse of cases with the hTERT mRNA values in all malignancy groups. Patients who had higher initial hTERT mRNA values showed significantly longer disease-free survival (DFS) and overall survival (OS) in ALL (P = 0.000 and 0.01, respectively). Although DFS and OS was longer in AML patients with lower initial hTERT mRNA, the difference was not significant. In conclusion, the hTERT mRNA expression values were not significantly associated with the known prognostic factors in children both with ALL and AML. hTERT mRNA value is a significant factor for childhood ALL at diagnosis in relation to the estimated survival. © 2008 The Japanese Society of Hematology.Öğe Evaluation of preimplantation genetic aneuploidy screening cases at a reference i genetics center: 10 years' experience(Editions Medecine et Hygiene, 2016) Durmaz B.; Karaca E.; Tavmergen Goker E.N.; Tavmergen E.; Sahn G.; Akdogan A.; Yasar B.R.; Gunduz C.; Özkınay F.Evaluation of preimplantation genetic aneuploidy screening cases at a reference genetics center: 10years' experience: The aim of this study is to review and evaluate our preimplantation genetic screening (PGS) records in terms of their demographic data, indications, cytogenetic results, pregnancy outcomes and discuss these findings in different aspects. PGS was performed in a total of 84 couples (87 cycles) between the period 2005 to 2015. Biopsied biastomeres from embryos on day 3 were fixed and fluorescence in situ hybridization was carried out for chromosomes 13, 16, 18, 21, 22, X and Y depending on the indication. The diagnostic and clinical data were retrospectively evaluated. A total of450 biastomeres were biopsied. Ninety-eight of them were found to be suitable for transfer. They were transferred to 72 patients in 75 cycles resulting in 23 pregnancies and 20 healthy births. The most common indication wasjunexplained infertility. The implantation rate was calculated as 23.4% whereas the take-home baby rate was 26.6% per transfer. The highest rate of healthy living births is achieved in patients having low grade maternal mosaic sex chromosomal aneuploidy. All living births achieved by PGS had normal chromosomal structure which we can propose it as an alternative test for couples at risk to select normal embryos to improve the outcomes of assisted reproductive procedures and to avoid the transfer of chromosomally unbalanced and multiple embryos.Öğe Evaluation of telomerase mRNA (hTERT) in childhood acute leukemia(2004) Cogulu O.; Kosova B.; Karaca E.; Gunduz C.; Özkınay F.; Aksoylar S.; Gulen H.; Kantar M.; Oniz H.; Karapinar D.; Cetingul N.; Erbay A.; Vergin C.; Özkınay, CihangirHuman telomerase reverse transcriptase (hTERT) is the catalytic component of telomerase enzyme and has been shown to be associated with telomerase activity (TA). Although many studies in adult leukemia have established the importance of TA, very few have been reported in the children. In this study hTERT levels in childhood leukemia was evaluated and compared with the prognostic factors described before. The LightCycler instrument was used (online real-time PCR) for the quantification of hTERT in peripheral blood and bone marrow in 23 cases with acute lymphoblastic leukemia (ALL) and in 8 cases with acute myeloblastic leukemia (AML). Ten cases with normal peripheral blood (PB) and bone marrow (BM) were selected as control group. Cytogenetic analyses were available in 21 patients with leukemia. In all cases with acute leukemia and in control group, peripheral blood (PB) hTERT levels correlated significantly with bone marrow (BM) hTERT levels. Before treatment, patients with ALL had significantly higher hTERT levels than that of AML patients and control cases. Among patients with ALL, higher hTERT levels were observed in patients with pre-B leukemia, followed by B cell and T cell leukemia patients. Initially increased hTERT levels decreased to the nearly normal levels during remission in cases with ALL. No correlation was observed between the initial hTERT levels and the known prognostic factors except cytogenetic findings. Higher hTERT levels were detected in patients having karyotypic abnormalities which indicate poor prognosis. hTERT levels are significantly high in childhood ALL with the highest level of pre-B cell leukemia before treatment. Those high levels of hTERT decrease to almost normal levels in remission. hTERT levels might be useful in monitoring of leukemia in children. © 2004 Taylor & Francis Ltd.Öğe Functional consequences and structural interpretation of mutations of human choline acetyltransferase(2011) Shen X.-M.; Crawford T.O.; Brengman J.; Acsadi G.; Iannaconne S.; Karaca E.; Khoury C.; Mah J.K.; Edvardson S.; Bajzer Z.; Rodgers D.; Engel A.G.Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause potentially lethal congenital myasthenic syndromes associated with episodic apnea (ChAT-CMS). Here, we analyze the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. Nine of the mutations are novel. We examine expression of the recombinant missense mutants in Bosc 23 cells, determine their kinetic properties and thermal stability, and interpret the functional effects of 11 mutations in the context of the atomic structural model of human ChAT. Five mutations (p.Trp421Ser, p.Ser498Pro, p.Thr553Asn, p.Ala557Thr, and p.Ser572Trp) reduce enzyme expression to less than 50% of wild-type. Mutations with severe kinetic effects are located in the active-site tunnel (p.Met202Arg, p.Thr553Asn, and p.Ala557Thr) or adjacent to the substrate binding site (p.Ser572Trp), or exert their effect allosterically (p.Trp421Ser and p.Ile689Ser). Two mutations with milder kinetic effects (p.Val136Met and p.Ala235Thr) are also predicted to act allosterically. One mutation (p.Thr608Asn) below the nucleotide binding site of CoA enhances dissociation of AcCoA from the enzyme-substrate complex. Two mutations introducing a proline residue into an ?-helix (p.Ser498Pro and p.Ser704Pro) impair the thermal stability of ChAT. ©2011 Wiley Periodicals, Inc.Öğe Genetic approach to common congenital anomalies in pediatric surgery [Pediatrik cerrahide si{dotless}k karşi{dotless}laşi{dotless}lan konjenital anomalilere genetik yaklaşi{dotless}m](Galenos Publishing House, 2013) Durmaz A.; Durmaz B.; Karaca E.; Ergün O.; Çogulu O.Congenital anomalies which occur 3-4% of births are developmental defects and are important cause of perinatal mortality and morbidity. When considering these anomalies in the newborn period or later, first they should be classified and possible treatment options should be reviewed promptly. At this stage, Pediatric Surgery Departments serve and contribute to the correction of these abnormalities. On the other hand, genetic services are important not only for the identification of genetic syndromes by dysmorphic examination but also for providing genetic counseling for families having possible risks and planning future pregnancies. In this review, the most common congenital anomalies in pediatric surgery were discussed as well as their genetic basis, diagnosis, prognosis and treatment options in the light of up-to-date literature.Öğe Genotyping of ß-globin gene mutations in single lymphocytes: A preliminary study for preimplantation genetic diagnosis of monogenic disorders(2012) Durmaz B.; Özkınay F.; Onay H.; Karaca E.; Aydinok Y.; Tavmergen E.; Vrettou C.; Traeger-Synodinos J.; Kanavakis E.Hemoglobinopathies, especially ß-thalassemia (ß-thal), represent an important health burden in Mediterranean countries like Turkey. Some couples prefer the option of preimplantation genetic diagnosis (PGD). However, clinical application of PGD, especially for the monogenic disorders is technically demanding. To ensure reliable results, protocols need to be robust and well standardized. Ideally PGD-PCR (polymerase chain reaction) protocols should be based on multiplex and fluorescent PCR for analysis of the disease-causing mutation(s) along with linked markers across the disease-associated locus. In this study, we aimed to constitute a protocol in single cells involving first round multiplex PCR with primers to amplify the region of the ß-globin gene containing the most common mutations. Two microsatellites linked to the ß-globin gene cluster (D11S4891, D11S2362) and two unlinked (D13S314, GABRB3) microsatellite markers, were used to rule out allele dropout (ADO) and contamination; followed by nested real-time PCR for genotyping the ß-globin mutations. We also investigated the allele frequencies and heterozygote rates of these microsatellites in the Turkish population that have not been reported to date. This protocol was tested in 100 single lymphocytes from heterozygotes with known ß-globin mutations. Amplification failure was detected in one lymphocyte (1%) and ADO was observed in two lymphocytes (2%). No contamination was detected. All results were concordant with the genotypes of the patients. Overall, this protocol was demonstrated to be sensitive, accurate, reliable and rapid for the detection of ß-globin mutations in single cells and shows potential for the clinical application of PGD for hemoglobinopathies in the Turkish population. Copyright © Informa Healthcare USA, Inc.Öğe Image-directed and color Doppler ultrasonography in the diagnosis of postbiopsy arteriovenous fistulas of native kidneys(1995) Özbek S.S.; Memiş A.; Killi R.; Karaca E.; Kabasakal C.; Mir S.Using image-directed and color Doppler ultrasonography (ICDUS), we examined 65 patients with single kidney biopsy and diagnosed one arteriovenous fistula (AVF) in each of 8 kidneys. Three of them were associated with pseudoaneurysms. Three of the patients with AVF who presented with macrohematuria underwent angiography. Therapeutic percutaneous embolization was performed in 2 of them. The remaining 6 patients were followed up with ICDUS. All the lesions had disappeared at the end of a 6-month period. We conclude that ICDUS is an easy and noninvasive imaging technique in the diagnosis of postbiopsy native renal AVFs. © 1995 John Wiley & Sons, Inc. Copyright © 1995 Wiley Periodicals, Inc., A Wiley CompanyÖğe MicroRNA expression profiling in children with different asthma phenotypes(John Wiley and Sons Inc., 2016) Midyat L.; Gulen F.; Karaca E.; Özkınay F.; Tanac R.; Demir E.; Cogulu O.; Aslan A.; Özkınay, Cihangir; Onay H.; Atasever M.An improved understanding of the molecular mechanisms in asthma through exploring the role of microRNAs may offer promise to reveal new approaches for primary prevention and identification of new therapeutic targets in childhood asthma. The primary goal of this study is to identify the microRNAs that play a role in the pathogenesis of asthma in pediatric age group. The secondary goal is to analyze these microRNAs according to the asthma phenotype, atopic status, and severity of the disease exacerbation. To our knowledge, this is the first research project in the literature which studies the relationship between microRNA expression and the severity of childhood asthma. One hundred children between 6 and 18 years old with a diagnosis of asthma, and 100 age-matched healthy children were enrolled in this study, and the analyses of microRNA expression profiles were performed in the Medical Genetics Laboratories of Ege University between November 2009 and June 2010. The expression of 10 microRNAs were shown to be higher in patients with more severe asthma, and the expression of these microRNAs were also found to be higher in patients who present with more severe acute asthma exacerbation symptoms (P<0.001). Also, five microRNAs were found to be expressed more than twofold in allergic patients when compared to non-allergic participants (P<0.001). Asthma is one of the best examples of complex genetic diseases, and further studies, which will investigate the relationship between these microRNA’s and their target genes, are needed to learn more about the specific roles of microRNAs in respiratory diseases. Pediatr Pulmonol. © 2015 Wiley Periodicals, Inc.Öğe Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew- Minneapolis and Hb Hinsdale from Turkey(Maney Publishing, 2015) Aykut A.; Onay H.; Durmaz A.; Karaca E.; Vergin C.; Aydinok Y.; Özkınay F.Objectives: The Agean is one of the regions in Turkey where thalassemias and abnormal hemoglobins (Hbs) are prevalent. Combined heterozygosity of thalassemia mutations with a variety of structural Hb variants lead to an extremely wide spectrum of clinical and hematological phenotypes which is of importance for prenatal diagnosis. Methods: One hundred and seventeen patients and carriers diagnosed by hemoglobin electrophoresis (HPLC), at risk for abnormal hemoglobinopathies were screened for mutational analysis of the beta-globin gene. The full coding the 5' UTR, and the 3' UTR sequences of beta-globin gene (GenBank accession no. U01317) were amplified and sequenced. Results: In this study, a total of 118 (12.24%) structural Hb variant alleles were identified in 1341 mutated beta-chain alleles in Medical Genetics Department of Ege University between January 2006 and November 2013. Discussion: Here, we report the mutation spectrum of abnormal Hbs associated with the beta-globin gene in Aegean region of Turkey. Conclusion: In the present study, the Hb Hinsdale and Hb Andrew-Minneapolis variants are demonstrated for the first time in the Turkish population. © W. S. Maney & Son Ltd 2015.Öğe Molecular basis of ß-thalassemia in the population of the Aegean Region of Turkey: Identification of a novel deletion mutation(Taylor and Francis Ltd, 2015) Özkınay F.; Onay H.; Karaca E.; Arslan E.; Erturk B.; Ece Solmaz A.; Tekin I.M.; Cogulu O.; Aydinok Y.; Vergin C.ß-Thalassemia (ß-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of ß-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated ß-thal subjects, detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method, and direct automated DNA sequencing for the unknown samples. Thirty-one different ß-thal alleles were identified. Seven mutations, namely IVS-I-110 (G > A) (41.7%), IVS-I-1 (G > A) (8.9%), IVS-II-745 (C > G) (8.6%), codon 8 (-AA) (7.7%), IVS-II-1 (G > A) (7.2%), IVS-I-6 (T > C) (6.6%), codon 39 (C > T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 ß-thal mutations were less than 2.2%; these included one novel mutation [HBB: c.206-212del (p.Leu69Profs*19)], and four others [-56 (G > C), codon 16 (-C), IVS-I (-3) (C > T) (codon 29), codon 76 (-C)] found in Turkey for the first time. The results will help to prevent severe ß-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey. © 2015 Informa Healthcare USA, Inc.
