Author(s): Elmezayen AD, Kotb SM, Sadek NA, Abdalla EM
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Abstract β-thalassemia is a common hereditary disorder, particularly in Middle Eastern countries. More than 200 mutations in the β globin gene have been reported; most are point mutations in functionally important regions (HBB; OMIM #141900)). The spectrum of mutations varies significantly between different geographical regions; only a few common mutations of β-globin cause β-thalassemia in each population. The aim of this study was to determine the spectrum of mutations that cause β-thalassemia in the North Coast of Egypt and to investigate their correlation with the phenotypic severity of β-thalassemia. We carried out our study with a total of 47 Egyptian patients (25 male and 22 female) confirmed to have β-thalassemia. Evaluation of β-thalassemia mutations revealed the presence of 10 β-globin mutations. The most frequently encountered mutations were intronic: IVS 1.6 [T>C] (27.66\%) and IVS 1.110 [G>A] (22.35\%), followed by IVS 2.848 [C>A], IVS 1.1 (G>A), and IVS 2.745 [C>G]. We observed the exonic and promoter mutations less frequently. A homozygous mutation was found in 24 patients (51\%) and compound heterozygous mutations were found in 13 patients (28\%). However, in 9 patients (19\%), we identified only 1 mutation. In 1 patient (2\%), we detected no mutation. The detection rate of the method that we used in our population was 88\% (83 of the tested 94 alleles). The results we obtained did not reveal any correlation between genotype and phenotype among patients with β-thalassemia. Copyright© by the American Society for Clinical Pathology (ASCP).
This article was published in Lab Med
and referenced in Journal of Molecular and Genetic Medicine
- Eugene Stephane Mananga
On Fer and Floquet-Magnus expansions: Application in solid-state nuclear magnetic resonance and physics
- Yosef Yarden
Classically, the 3âuntranslated region (3âUTR) is that region in eukaryotic protein-coding genes from the translation termination codon to the polyA signal. It is transcribed as an integral part of the mRNA encoded by the gene. However, there exists another kind of RNA, which consists of the 3âUTR alone, without all other elements in mRNA such as 5âUTR and coding region. The importance of independent 3âUTR RNA (referred as I3âUTR) was prompted by results of artificially introducing such RNA species into malignant mammalian cells. Since 1991, we found that the middle part of the 3âUTR of the human nuclear factor for interleukin-6 (NF-IL6) or C/EBP gene exerted tumor suppression effect in vivo. Our subsequent studies showed that transfection of C/EBP 3âUTR led to down-regulation of several genes favorable for malignancy and to up-regulation of some genes favorable for phenotypic reversion. Also, it was shown that the sequences near the termini of the C/EBP 3âUTR were important for its tumor suppression activity. Then, the C/EBP 3âUTR was found to directly inhibit the phosphorylation activity of protein kinase CPKC in SMMC-7721, a hepatocarcinoma cell line. Recently, an AU-rich region in the C/EBP 3âUTR was found also to be responsible for its tumor suppression. Recently we have also found evidence that the independent C/EBP 3âUTR RNA is actually exists in human tissues, such as fetal liver and heart, pregnant uterus, senescent fibroblasts etc. Through 1990âs to 2000âs, world scientists found several 3âUTR RNAs that functioned as artificial independent RNAs in cancer cells and resulted in tumor suppression. Interestingly, majority of genes for these RNAs have promoter-like structures in their 3âUTR regions, although the existence of their transcribed products as independent 3âUTR RNAs is still to be confirmed. Our studies indicate that the independent 3âUTR RNA is a novel non-coding RNA species whose function should be the regulation not of the expression of their original mRNA, but of some essential life activities of the cell as a whole.
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