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...

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Bibliographic Details
Published in:	Acta haematologica Vol. 104; no. 4; p. 181
Main Authors:	Güleşken, S, Oren, H, Vergin, C, Sanli, N, Gülen, H, Uçar, C, Irken, G
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2000
Subjects:	Alleles beta-Thalassemia - epidemiology beta-Thalassemia - genetics Child DNA Mutational Analysis Gene Frequency Genetic Testing - methods Genotype Humans Nucleic Acid Hybridization - methods Oligonucleotide Array Sequence Analysis - methods Point Mutation Time Factors Turkey - epidemiology Turkey
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Summary:	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.
ISSN:	0001-5792
DOI:	10.1159/000046512