Molecular basis of ?-thalassemia in Turkey: detection of rare mutations by direct sequencing
- 1 January 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 84 (2) , 195-197
- https://doi.org/10.1007/bf00208941
Abstract
Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for β-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift at codon 8 were the most frequent. By direct sequencing we characterized two very rare mutations not previously reported in the Turkish population: a frameshift +1 at codons 9/10 and a nonsense mutation at codon 15.Keywords
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