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- W2883257500 abstract "The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β 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 β 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." @default.
- W2883257500 created "2018-08-03" @default.
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- W2883257500 date "2018-06-05" @default.
- W2883257500 modified "2023-10-16" @default.
- W2883257500 title "β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major" @default.
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- W2883257500 doi "https://doi.org/10.4081/thal.2018.7286" @default.
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