The aim of the present study was to evaluate the point mutations of beta-thalassemia patients from the Aegean region of Turkey by using an allele-specific oligonucleotide hybridization technique. DNA isolated from peripheral blood samples of 75 children with beta-thalassemia major or intermedia was analyzed using a Bio-Rad mDxTM-Be Tha Gene 1 kit. We determined mutations in 56 (74.6%) patients. The allelic frequency of mutations in 150 chromosomes was as follows: IVS-I-110 (G–A) 44.1%, IVS-I-1 (G–A) 28.2%, IVS-I-6 (T–C) 13.3%, IVS-II-745 (C–G) 9.3%, IVS-II-1 (G–A) 2.7%, Cd 39 (C–T) 2.4%, –87 (C–G) 0% and Cd 6 (–A) 0%. The distribution of the mutation types was consistent with the findings of other research groups.

Keywords:
Allele-specific oligonucleotide, Beta-thalassemia, Hybridization, Thalassemic mutations
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© 2001 S. Karger AG, Basel
2001
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