Molecular Biology Reports

, Volume 37, Issue 1, pp 149–154

Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques

Article

Abstract

Beta Thalassemia has been reported to be a common genetic disorder in Iran. To establish the molecular spectrum of the beta thalassemias in the Kermanshah Province of Iran, 185 unrelated beta thalassemia patients with Kurdish ethnic background were studied (181 β-thalassemia major and 4 β-thalassemia intermedia). Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct genomic sequencing twenty different mutations were identified accounting for 98.1% of the alleles. Approximately 80.8% of β-thalassemia chromosomes had β0 mutation. The most prevalent mutation was the IVSII-1 (G→A) (32.97%), followed by CD8/9 +G (13.51%), IVSI-110 (C→T) (8.38%), CD 36/37 −T (7.84%), CD8 −AA (5.94%), CD15 (G→A) (4.86%) and IVSI-1 (G→A) (4.59%). All of these mutations accounted for 78.1% of the alleles. The results described here will be of valuable help in the development of successful prevention programs for the population of Kermanshah.

Keywords

Beta thalassemia Molecular analysis Mutation Western Iran 

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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  1. 1.Medical Biology Research Center, Medical SchoolKermanshah University of Medical SciencesKermanshahIran
  2. 2.Department of Biochemistry, Medical SchoolKermanshah University of Medical SciencesKermanshahIran
  3. 3.Department of Medicine, Division of Hematology, Department of Physiology and BiophysicsAlbert Einstein College of MedicineBronxUSA
  4. 4.Division of Neuroscience & BehaviorNational Institutes of HealthRockvilleUSA

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