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Middle East Journal of Medical Genetics:
doi: 10.1097/01.MXE.0000438179.47299.3c
Original articles

Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients

Salem, Ahmed M.a; El-Bassyouni, Hala T.b; El-Kamah, Ghada Y.b; Zarouk, Waheba A.c; Eid, Maha M.d; Mosaad, Rehab M.c; Sayed, Ahmed A.a; Temtamy, Samia A.b

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Background: Fanconi anemia (FA)-A is the most frequent complementation group and is detected in approximately two-thirds of studied FA patients in most countries.

Aim: The aim of the study was to screen for the common mutations previously reported in the international literature within exons 27, 34, 38, and 43 of the FANCA gene among Egyptian FA patients.

Patients and methods: The study included 24 Egyptian FA patients of unrelated consanguineous pedigrees and diagnosed by positive chromosomal breakage studies using diepoxybutane. Ten healthy unrelated individuals of matching age and sex were included as the control group. Genomic DNA amplification, sequencing of exons 27, 34, and 43 of the FANCA gene, and restriction enzyme analysis for the exon 38 3788–3790del mutation were performed for patients and controls.

Results: No mutations were detected within the studied FANCA gene exons.

Conclusion: Absence of mutations within the studied exons may denote a different FA molecular pattern in Egyptian patients. Further studies are recommended to define the underlying mutations among Egyptian FA cases as an important step in disease control.

© 2014 Middle East Journal of Medical Genetics


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