. 2016; 33(2): 107-111 | DOI: 10.4274/tjh.2014.0242 | |||
β-Globin Gen Kümesini İçine Alan Büyük Delesyonel Mutasyonların Gap-PCR ile Taranması Türk Tipi İnversiyon/Delesyon (δβ)0 Mutasyonunun Antalya’da Yüksek Sıklıkta Olduğunu GösterdiTürker Bilgen1, Özden Altıok Clark3, Zeynep Öztürk4, M. Akif Yeşilipek4, İbrahim Keser21Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey, Namık Kemal University Central Research Laboratory (NABİLTEM), Tekirdağ, Turkey2Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey 3Akdeniz University Faculty of Medicine, Department of Medical Genetics, Antalya, Turkey 4Akdeniz University Faculty of Medicine, Department of Pediatric Hematology and Oncology, Antalya, Turkey GİRİŞ ve AMAÇ: Beta-globin genindeki nokta mutasyonlarının sıklığı Antalya bölgesi için yaklaşık %10 olarak belirlenmiş olmasına rağmen, betaglobin genini içine alan büyük delesyonel tip mutasyonların profili hakkında hiçbir şey bilinmemektedir. Bu çalışmada, DNA dizi analizi yöntemiyle beta-globin geninde hastalığın oluşmasından sorumlu mutasyon(lar) tespit edilememiş talasemili olgularda beta-globin gen kümesinde yaygın görülen büyük delesyonel mutasyonları taramayı amaçladık. Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in AntalyaTürker Bilgen1, Özden Altıok Clark3, Zeynep Öztürk4, M. Akif Yeşilipek4, İbrahim Keser21Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey, Namık Kemal University Central Research Laboratory (NABİLTEM), Tekirdağ, Turkey2Akdeniz University Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey 3Akdeniz University Faculty of Medicine, Department of Medical Genetics, Antalya, Turkey 4Akdeniz University Faculty of Medicine, Department of Pediatric Hematology and Oncology, Antalya, Turkey INTRODUCTION: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Türker Bilgen, Özden Altıok Clark, Zeynep Öztürk, M. Akif Yeşilipek, İbrahim Keser. Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya. . 2016; 33(2): 107-111 Sorumlu Yazar: Türker Bilgen, Türkiye |
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