Mutational analysis of beta-thalassemia cases from the Aegean region of Turkey using an allele-specific oligonucleotide hybridization technique.
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 mD(x)(TM)-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.
Departments of Pediatric Hematology, Dokuz Eylül University and Behçet Uz Children's Hospital, TR-35340 Balçova, Izmir, Turkey.
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D000483:Alleles; D002648:Child; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D017354:Point Mutation; D013997:Time Factors; D014421:Turkey / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*