African Journal of
Biotechnology

  • Abbreviation: Afr. J. Biotechnol.
  • Language: English
  • ISSN: 1684-5315
  • DOI: 10.5897/AJB
  • Start Year: 2002
  • Published Articles: 12496

Full Length Research Paper

Thalassemia mutations in Gaziantep, Turkey

  Sacide Pehlivan1*, Vahap Okan2, Elif Guler3, Mehmet Yilmaz2, Tugce Sever1, Ebru Dikensoy4, Gaye Cankus 1, Ozcan Balat4 and Mustafa Pehlivan2  
  1Department of Medical Biology and Genetic, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey. 2Department of Hematology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey. 3Department of Pediatric Oncology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey. 4Department of Obstetrics and Gynecology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey.
Email: [email protected], [email protected]

  •  Accepted: 19 January 2010
  •  Published: 22 February 2010

Abstract

 

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (−AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%,Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, α-thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally, this is the first comprehensive study in this region and percentage of α and β- globin genes mutation is 2.6 and 79.4%, respectively.

 

Key words: α- thalassemia, β -thalassemia, DNA, mutation, polymerase chain reaction.