A Novel Beta Globin Gene Polymorphism in Turkish Population: IVS-II 706 G>A
نویسندگان
چکیده
منابع مشابه
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study
INTRODUCTION The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. MATERIALS AND METHODS 106 pediatric patients were analysed for β-globin gene mutations by...
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The restriction enzyme Ava II detects the base change of the intervening sequence II (IVS II) which is used as one of the markers of β-globin gene polymorphism. This study was conducted to determine the frequency of the Ava II site on the β-globin gene among normal people and patients with sickle cell syndrome (SCS) in Iran. DNA fragments containing the IVS II region of the β-globin gene from...
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A G to T transversion at the fifth nucleotide of the first intervening sequence (IVS-1 ) of the $-globin gene has been identified in cloned fi-thalassemia genes of two unrelated individuals. one of Mediterranean and the other of Anglo Saxon ancestry. In each patient the mutation was present in a different globin gene framework. defined by intragenic restriction site polymorphisms. thereby sugge...
متن کاملBeta globin gene cluster haplotypes of the beta thalassemia mutations observed in the Denizli province of Turkey Denizli yöresinde gözlenen beta talasemi mutasyonlarına ait beta globin gen ailesi haplotipleri
Objective: Our aim was to identify the beta globin gene cluster haplotypes for the beta thalassemia mutations in Turkey on a regional level. Beta thalassemia mutations included in this study were IVS-I-110 (G>A), FSC 8/9 (+G), IVS-II-1 (G>A), IVS-I-5 (G>C), IVS-I-1 (G>A), IVS-I-6 (T>C), and FSC 8 (-AA). Methods: We studied 22 unrelated patients with β-thalassemia major and 72 unrelated healthy ...
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ژورنال
عنوان ژورنال: The Journal of Pediatric Research
سال: 2015
ISSN: 2147-9445
DOI: 10.4274/jpr.37450