1. β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major.
- Author
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Hancer, Veysel Sabri, Fisgin, Tunc, Buyukdogan, Murat, Bozkurt, Ceyhun, and Lako, Sotiraq
- Subjects
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BETA-Thalassemia , *GLOBIN genes , *GENETIC counseling , *MOLECULAR diagnosis , *NUCLEOTIDE sequence - Abstract
The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The b globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of b globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3' UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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