Molecular and population genetic analyses of β-Thalassemia in Turkey
1998; Wiley; Volume: 57; Issue: 3 Linguagem: Inglês
10.1002/(sici)1096-8652(199803)57
ISSN1096-8652
AutoresGhazi Omar Tadmouri, Şükrü Tüzmen, H. Özçelik, A. Özer, Shahid Mahmood Baig, E.B. Senga, Anindita Basak,
Tópico(s)Iron Metabolism and Disorders
ResumoAmerican Journal of HematologyVolume 57, Issue 3 p. 215-220 Free Access Molecular and population genetic analyses of β-Thalassemia in Turkey G.O. Tadmouri, G.O. Tadmouri Boğaziçi University, Department of Molecular Biology and Genetics, Istanbul, TurkeySearch for more papers by this authorŞ. Tüzmen, Corresponding Author Ş. Tüzmen NIH, NIDDK, Laboratory of Chemical Biology, Bethesda, MarylandLaboratory of Chemical Biology, Bethesda, MD 20892-1822Search for more papers by this authorH. Özçelik, H. Özçelik Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorA. Özer, A. Özer Marmara University, Department of Medical Biology, Istanbul, TurkeySearch for more papers by this authorS.M. Baig, S.M. Baig H-No. B-38, Gulistan-E-Jinnah, Faizabad, Rawalpindi, PakistanSearch for more papers by this authorE.B. Senga, E.B. Senga University of Malawi, College of Medicine, Blantyre, MalawiSearch for more papers by this authorA.N. Başak, A.N. Başak Boğaziçi University, Department of Molecular Biology and Genetics, Istanbul, TurkeySearch for more papers by this author G.O. Tadmouri, G.O. Tadmouri Boğaziçi University, Department of Molecular Biology and Genetics, Istanbul, TurkeySearch for more papers by this authorŞ. Tüzmen, Corresponding Author Ş. Tüzmen NIH, NIDDK, Laboratory of Chemical Biology, Bethesda, MarylandLaboratory of Chemical Biology, Bethesda, MD 20892-1822Search for more papers by this authorH. Özçelik, H. Özçelik Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorA. Özer, A. Özer Marmara University, Department of Medical Biology, Istanbul, TurkeySearch for more papers by this authorS.M. Baig, S.M. Baig H-No. B-38, Gulistan-E-Jinnah, Faizabad, Rawalpindi, PakistanSearch for more papers by this authorE.B. Senga, E.B. Senga University of Malawi, College of Medicine, Blantyre, MalawiSearch for more papers by this authorA.N. Başak, A.N. Başak Boğaziçi University, Department of Molecular Biology and Genetics, Istanbul, TurkeySearch for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8652(199803)57:3 3.0.CO;2-YCitations: 62AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Abstract In this report we describe the molecular analysis of 795 chromosomes derived from unrelated Turkish β-thalassemia and sickle cell anemia carriers identified in hematology clinics in Istanbul, Ankara, Izmir, Adana, and Antalya. The determination of the molecular pathology of 754 β-thalassemia and 42 abnormal hemoglobin genes and analysis of the frequency distribution in six distinct regions of Turkey was accomplished. The experimental strategy, based on PCR amplification of the β-globin gene, included dot-blot hybridization with 18 probes specific for the Mediterranean populations, denaturing gradient gel electrophoresis, and genomic sequencing. When the regional results are compared with the overall frequency of mutations in the country, it is observed that the frequencies in the western and southern parts of Turkey are in good accordance with the overall distribution, whereas the northern and eastern parts have a more region/population-specific profile with some rare mutations having a significantly high occurrence in these regions. Further evaluation of the data with respect to region- or population-dependent differences will contribute to a better understanding of the mechanisms leading to the marked genetic heterogeneity in Turkey, but could also be extremely valuable in facilitating rapid identification of mutations in families at risk for different hemoglobinopathies. Am. J. Hematol. 57:215–220, 1998. © 1998 Wiley-Liss, Inc. References 1 Weatherall DJ, Clegg JB: " The Thalassemia Syndromes." Oxford: Blackwell Scientific Publications, 1981. 2 WHO: Community Control of Hereditary Anemias: Memorandum From a WHO Meeting. Bulletin WHO 61: 63, 1983. 3 Baysal E, Carver MFH: The β- and δ-Thalassemia Repository (8 th ed.). Hemoglobin 19: 213, 1995. 4 Kazazian HH Jr, Boehm CD: Molecular basis and prenatal diagnosis of β-thalassemia. 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