. 2020; 37(3): 145-153 | DOI: 10.4274/tjh.galenos.2020.2019.0262 | |||
Hemofili A’lı 270 Olgunun Faktör 8 Gen Mutasyon Spektrumu: 36 Yeni Mutasyon TespitiTahir Atik1, Esra Işık1, Hüseyin Onay2, Bilçağ Akgün1, Moharram Shamsali3, Kaan Kavaklo4, Melike Evim5, Gülen Tüysüz6, Namık Yaşar Özbek7, Fahri Şahin8, Zafer Salcıoğlu9, Canan Albayrak10, Yeşim Oymak11, Ekrem Ünal12, Fatma Burcu Belen13, Ebru Yılmaz Keskin14, Can Balkan4, Birol Baytan5, Alphan Küpesiz6, Vildan Culha7, Tuba Nur Tahtakesen9, Adalet Meral Güneş5, Ferda Özkınay11Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey2Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey 3Ege University Institute of Health Sciences, Division of Health Bioinformatics, İzmir, Turkey 4Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, İzmir, Turkey 5Uludağ University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Bursa, Turkey 6Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Antalya, Turkey 7University of Health Sciences Turkey Ankara Pediatric Hematology Oncology Training and Research Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 8Ege University Faculty of Medicine, Department of Internal Medicine, Division of Hematology, İzmir, Turkey 9İstanbul Kanuni Sultan Süleyman Training and Research Hospital, Clinic of Pediatric Hematology and Oncology, İstanbul, Turkey 10Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Hematology and Oncology, Samsun, Turkey 11Dr. Behcet Uz Children’s Hospital, Division of Pediatric Hematology, İzmir, Turkey 12Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Kayseri, Turkey 13Katip Çelebi University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, İzmir, Turkey 14Süleyman Demirel University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Isparta, Turkey Amaç: Hemofili A (HA), faktör 8 (F8) genindeki hemizigot mutasyonların neden olduğu X’e bağlı kalıtsal kanama bozukluğudur. Bu çalışmanın amacı, Türkiye’den büyük bir HA kohortunda F8 geninin mutasyon spektrumunu belirlemek ve fenotip-genotip korelasyonu oluşturmaktır. Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel MutationsTahir Atik1, Esra Işık1, Hüseyin Onay2, Bilçağ Akgün1, Moharram Shamsali3, Kaan Kavaklo4, Melike Evim5, Gülen Tüysüz6, Namık Yaşar Özbek7, Fahri Şahin8, Zafer Salcıoğlu9, Canan Albayrak10, Yeşim Oymak11, Ekrem Ünal12, Fatma Burcu Belen13, Ebru Yılmaz Keskin14, Can Balkan4, Birol Baytan5, Alphan Küpesiz6, Vildan Culha7, Tuba Nur Tahtakesen9, Adalet Meral Güneş5, Ferda Özkınay11Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey2Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey 3Ege University Institute of Health Sciences, Division of Health Bioinformatics, İzmir, Turkey 4Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, İzmir, Turkey 5Uludağ University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Bursa, Turkey 6Akdeniz University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Antalya, Turkey 7University of Health Sciences Turkey Ankara Pediatric Hematology Oncology Training and Research Hospital, Clinic of Pediatric Hematology, Ankara, Turkey 8Ege University Faculty of Medicine, Department of Internal Medicine, Division of Hematology, İzmir, Turkey 9İstanbul Kanuni Sultan Süleyman Training and Research Hospital, Clinic of Pediatric Hematology and Oncology, İstanbul, Turkey 10Ondokuz Mayıs University Faculty of Medicine, Department of Pediatric Hematology and Oncology, Samsun, Turkey 11Dr. Behcet Uz Children’s Hospital, Division of Pediatric Hematology, İzmir, Turkey 12Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Kayseri, Turkey 13Katip Çelebi University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, İzmir, Turkey 14Süleyman Demirel University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Hematology, Isparta, Turkey Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation. Tahir Atik, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Moharram Shamsali, Kaan Kavaklo, Melike Evim, Gülen Tüysüz, Namık Yaşar Özbek, Fahri Şahin, Zafer Salcıoğlu, Canan Albayrak, Yeşim Oymak, Ekrem Ünal, Fatma Burcu Belen, Ebru Yılmaz Keskin, Can Balkan, Birol Baytan, Alphan Küpesiz, Vildan Culha, Tuba Nur Tahtakesen, Adalet Meral Güneş, Ferda Özkınay. Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations. . 2020; 37(3): 145-153 Sorumlu Yazar: Tahir Atik, Türkiye |
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