@article {117548,
	title = {Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.},
	journal = {Hemoglobin},
	volume = {31},
	year = {2007},
	month = {2007},
	pages = {63-9},
	abstract = {<p>The aim of this study was the molecular characterization of beta-thalassemia (thal) mutations in a group of 95 Egyptian thalassemic patients from Fayoum in Upper Egypt, Cairo, Alexandria and Tanta in Lower Egypt and the Nile Delta. To identify these anomalies, the polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique was used, complemented by direct DNA sequencing for uncharacterized cases. In 80 of the 95 patients, the beta-thal mutation was detected by PCR-ARMS. The most common allele encountered in our study was IVS-I-6 (T--\&gt;C) (36.3\%); the second most common mutation was IVS-I-110 (G--\&gt;A) (25.8\%). In addition, we report three homozygous cases for the promoter region -87 (C--\&gt;G) allele with a frequency of 3.2\%. DNA sequencing of uncharacterized cases (14 cases, 15 alleles) revealed six cases (six alleles) of codon 27 (G--\&gt;T), and three cases (three alleles) of the IVS-II-848 (C--\&gt;A) mutation. Codon 37 (G--\&gt;A) in the homozygous state was found in one patient with positive consanguinity. The frameshift codon 5 (-CT) mutation was detected in two of our uncharacterized cases. The codon 15 (TGG--\&gt;TGA) mutations was detected in one patient (one allele, 0.5\%). All studied cases were fully characterized by this strategy. Screening for beta-thalassemic mutations using ARMS-PCR for the seven most frequent alleles in Egypt succeeded in determining the beta-globin genotype in 84.2\% of our patients (91.6\% of the expected alleles). To improve the efficiency of routine screening, the PCR-ARMS mutation panel should be updated to include the reported rare alleles. Direct DNA sequencing is an additional way to allow a full characterization of beta-thal patients in the Egyptian population.</p>
},
	keywords = {Amino Acid Sequence, Base Sequence, beta-Thalassemia, Child, Child, Preschool, consanguinity, DNA Mutational Analysis, Egypt, Female, Genetic Testing, Genetics, Population, Globins, Humans, Male, Mutation, Nucleic Acid Amplification Techniques, Point Mutation, Polymerase Chain Reaction},
	issn = {0363-0269},
	doi = {10.1080/03630260601057104},
	author = {El-Gawhary, Somaia and El-Shafie, Shahira and Manal Niazi and Mona Aziz and Amal El-Beshlawy}
}
