Molecular updating of β-thalassemia mutations in the Upper Egyptian population.

@article{Jiffri2010MolecularUO,
  title={Molecular updating of β-thalassemia mutations in the Upper Egyptian population.},
  author={Essam Hussien Jiffri and Neda M. Bogari and Khaled H Zidan and Salwa Teama and Nasser Attia Elhawary},
  journal={Hemoglobin},
  year={2010},
  volume={34 6},
  pages={538-47}
}
We have updated the dataset of the molecular spectrum of the β-thalassemia (β-thal) in Upper Egypt. Buccal swabs were analyzed from 94 unrelated patients with β-thal major (β-TM) using reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). The most frequent mutation was IVS-I-110 (G>A) (57%). The IVS-I-110, IVS-I-6 (T>C) and IVS-I-1 (G>A) mutations accounted for 87% of the β-thal anomalies. The codon 39 (C>T) and frameshift codon (FSC) 6… CONTINUE READING
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