title: Molecular updating of β-thalassemia mutations in the Upper Egyptian population.
abstract: 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 (-A) (GAG>-GG) mutations were only detected in Al-Minya and Qina, respectively. We did not observe the IVS-II-745 (C>G) or -101 (C>T) mutations. Forty-three percent of Upper Egyptians were homozygotes. Our efforts were an important step to complete the mutation map of β-thal in Egypt restricted to Cairo and the Nile Delta regions. This study will help to develop preventative programs for Upper Egyptians. It addressed the genetic drift of the β-thal gene mutations in Africa, Asia, and Europe.
authors.affiliation: Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdul-Aziz University-Jeddah, Jeddah, Kingdom of Saudi Arabia.
authors.forename: Essam H
authors.initials: EH
authors.lastname: Jiffri
authors.forename: Neda
authors.initials: N
authors.lastname: Bogari
authors.forename: Khaled H
authors.initials: KH
authors.lastname: Zidan
authors.forename: Salwa
authors.initials: S
authors.lastname: Teama
authors.forename: Nasser A
authors.initials: NA
authors.lastname: Elhawary
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins