Hatay'daki talasemi genotipleri ve talasemi genotip frekansı
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2014
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info:eu-repo/semantics/openAccess
Özet
Amaç: Dünyada çok yaygın olarak görülen ?-talasemi, hemoglobindeki ?-globin zincirinin eksikliği ya da azalması ile karakterize olan bir hastalıktır. ?-globin geni 16. kromozomun kısa kolu üzerinde (16p 13.3) bulunur ve dele syon ve tek nokta mutasyonu şeklinde (?3.7 , ?MED , ? COD8( - AA), ?2 IVS 1 -5nt, ?2 poly A1 mutasyonları) mutasyonlar içerir. Biz bu çalışmada Hatay bölgesindeki ?-talasemi gen mutasyonlarının frekansını belirlemeyi amaçladık. Yöntem : Bu amaçla, 2012 -2013 tarihleri arasında Mustafa Kemal Üniversitesi, Tıp Fakültesi, Tıbbi Genetik AD’a gelen ?-talasemili 407 hasta tarandı. ?-globin geninin moleküler analizi multipleks PCR (Polimeraz Zincir Reaksiyonu) teme lli ?-globin Strip Assay yöntemi (Vienna Lab Diagno stics, Vienna, Austria) ile gerçekleştirildi. Bulgular: Buna göre, bölgemizdeki ?3.7 , ?MED , ? COD8(-AA), ?2 IVS 1 -5nt, ?2 poly A1mutasyonlarının frekansları sırası ile %29.48, %5.16, %0.25, %0.25, %0.25 şeklinde bulu nmuştur. Sonuç : Sonuç olarak, mutasyonların görülme sıklığı etnik kökenden ve coğrafik bölgelerden etkilenmektedir. Hatay bölgesi de kendine has bir etnik kökene sahiptir ve bu yüzden ?-talasemi gen mutasyonları frekansları da kend ine has bir özelliktedir.
Objective : α-thalassemia, characterized by a decreased or lack of synthesis of α-globin chains of hemoglobin, is very common disease in the world. α-globin gene is located at the short arm of chromosome 16 (16p 13.3) and contains mutations including deletions and single point mutations (α3.7 , αMED , α COD8 (-AA), 1 -5nt IVS α2, α2 poly A1 mutations). In this study, we aimed to determine the frequency of α-thalassemia gene mutations in Hatay region. Method : To do so, study population who referred to Med i- cal Genetic Department of Mustafa Kemal University, M edical School for either detection of α-thalassemia gene mutations between 2012 -2013, 407 individuals with α- thalassemia gene mutations were includud to the study. Molecular screening of the α-globin gene was carried out by an α-globin strip assay (Vienna Lab Diagnostics, Vienna, Austria) which is based on multiplex PCR (Polymerase Chain Reaction) for specific amplification. Results : According to this, it has found that the frequencies of α3.7 , αMED , α COD8 ( -AA), 1 -5nt IVS α2, α2 poly A1 mutations are 29.48%, 5.16%, 0.25%, 0.25%, 0.25%, respectively. Conclusion : Consequently, the frequency of mutation affects ethnic backround and geographic locations. Hatay region also has a unique origin and so, the frequencies of α- thalassemia gene mutations has unique characteristic.
Objective : α-thalassemia, characterized by a decreased or lack of synthesis of α-globin chains of hemoglobin, is very common disease in the world. α-globin gene is located at the short arm of chromosome 16 (16p 13.3) and contains mutations including deletions and single point mutations (α3.7 , αMED , α COD8 (-AA), 1 -5nt IVS α2, α2 poly A1 mutations). In this study, we aimed to determine the frequency of α-thalassemia gene mutations in Hatay region. Method : To do so, study population who referred to Med i- cal Genetic Department of Mustafa Kemal University, M edical School for either detection of α-thalassemia gene mutations between 2012 -2013, 407 individuals with α- thalassemia gene mutations were includud to the study. Molecular screening of the α-globin gene was carried out by an α-globin strip assay (Vienna Lab Diagnostics, Vienna, Austria) which is based on multiplex PCR (Polymerase Chain Reaction) for specific amplification. Results : According to this, it has found that the frequencies of α3.7 , αMED , α COD8 ( -AA), 1 -5nt IVS α2, α2 poly A1 mutations are 29.48%, 5.16%, 0.25%, 0.25%, 0.25%, respectively. Conclusion : Consequently, the frequency of mutation affects ethnic backround and geographic locations. Hatay region also has a unique origin and so, the frequencies of α- thalassemia gene mutations has unique characteristic.
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