Beta talasemi mutasyon tiplerinin moleküler analizi
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Tarih
2000
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Tek gen hastalıkları arasında en çok bilineni ve yaygın olanı hemoglobinopatilerdir. Talasemi sendromları ve anormal hemoglobinopatiler özellikle İtalya, Yunanistan, Kıbrıs ve Türkiye gibi Akdeniz ülkelerinde olmak üzere Orta Doğu' dan Uzak Doğu' ya kadar uzanan bir kuşak boyunca yüksek oranda görülür. ?-talasemi mikrositozis ve hemolitik anemi ile karakterize otozomal resesif bir hastalıktır. Bu hastalık, hemoglobinin b-globin zincirinin normal sentezini bozan veya azaltan çeşitli moleküler defektlerle ortaya çıkar. Bu güne kadar 180 nin üzerinde ?-talasemi mutasyonu tanımlanmış olup, bunların analizi değişik moleküler yöntemlerle yapılmaktadır. Çalışmamızda, ?-talasemi mutasyonlarını saptamak amacıyla 35 talasemili olgudan alınan periferik kandan DNA izole edilmiş ve Amplification Refractory Mutation System (ARMS) tekniği ile mutasyon tayinine gidilmiştir. Türkiye' de en sık rastlanılan ?-talasemi mutasyonları olan IVS-I-110 mutasyonu (%32.85) en yüksek oranda gözlenmiştir. Bunu izleyen mutasyonlar; IVS-I-6 (%7.14), IVS-I-1 (%7.14) ve IVS-II-745 (%4.28)'dır. Bu çalışmadaki amacımız, talasemi mutasyon tiplerinin ortaya konabilmesi için gerekli olan laboratuvar standardizasyonunu sağlamak ve bu aşamadan sonra prenatal tanı için gereken laboratuvar çalışmalarına geçebilmektir.
Among the genetic diseases the most common disorders are hemoglobinopathies. Thalassemia and abnormal hemoglobinopathies are distributed living along the countries from Middle East to the Far East especially Mediterranean countries such as Italy, Greece, Cyprus and Turkey. β-thalassemia is an autosomal recessive disorder characterized by microcytosis and hemolytic anemia. The disorder comes out with various molecular defects that demolished or reduced β-globin chain synthesis. Recent molecular studies on β-thalassemia genes revealed the presence of more than 180 different mutations associated with the disorder by different molecular analyses. In this study, to describe the mutations on β-thalassemia homozygotes and heterozygotes, DNA extracted from peripheric blood samples and presence of the mutations was shown by amplification refractory mutation system (ARMS). IVS-l-110 (%32.85) mutation which is the most common β-thalassemia defect in Turkey is observed high frequency followed in IVS-I-6 (%7.14), IVS-I-1 (%7.14), IVS-II-745 (%4.28). The aim of this study is getting the standardization of laboratory and methodology for mutation analyses on β-thalassemia patients and traits and then to establish a prenatal diagnosis program in our laboratory.
Among the genetic diseases the most common disorders are hemoglobinopathies. Thalassemia and abnormal hemoglobinopathies are distributed living along the countries from Middle East to the Far East especially Mediterranean countries such as Italy, Greece, Cyprus and Turkey. β-thalassemia is an autosomal recessive disorder characterized by microcytosis and hemolytic anemia. The disorder comes out with various molecular defects that demolished or reduced β-globin chain synthesis. Recent molecular studies on β-thalassemia genes revealed the presence of more than 180 different mutations associated with the disorder by different molecular analyses. In this study, to describe the mutations on β-thalassemia homozygotes and heterozygotes, DNA extracted from peripheric blood samples and presence of the mutations was shown by amplification refractory mutation system (ARMS). IVS-l-110 (%32.85) mutation which is the most common β-thalassemia defect in Turkey is observed high frequency followed in IVS-I-6 (%7.14), IVS-I-1 (%7.14), IVS-II-745 (%4.28). The aim of this study is getting the standardization of laboratory and methodology for mutation analyses on β-thalassemia patients and traits and then to establish a prenatal diagnosis program in our laboratory.
Açıklama
Anahtar Kelimeler
Cerrahi
Kaynak
Ege Tıp Dergisi
WoS Q Değeri
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Cilt
39
Sayı
3
