scholarly journals The predominance of codon 39 (c>t) mutation of HBB gene in a portion of the Algerian population (Northeast Algeria)

2017 ◽  
Vol 90 (1) ◽  
Author(s):  
Belhadi Kamilia ◽  
Yahia Mouloud ◽  
Gribaa Moez ◽  
Bendaoud Fadhila ◽  
Ben Charfeddine Ilhem ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
University Hospital ◽  
Beta Globin ◽  
Frequent Mutation ◽  
Direct Dna Sequencing ◽  
Beta Globin Gene ◽  
Rare Mutations ◽  
Algerian Population ◽  
Geographical Regions

This study was planned to determine the frequency of β-thalassemia mutations in Batna region (Northeast Algeria). Nineteen blood samples of clinically thalassemic children patients were collected from Department of Pediatrics, University Hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C&gt;T) (<em>HBB</em>: c.118C&gt;T), IVSI-110(G&gt;A) (<em>HBB</em>: c.93-21G&gt;A), and IVSI-1-2(T&gt;G) (<em>HBB</em>: c.92+2T&gt;G), as well as the hemoglobin S variant (<em>HBB</em>: c.20A&gt;T). We used direct DNA sequencing to detect the rare mutations of beta-globin gene. We have revealed the presence of four different <em>β</em>-globin gene mutations responsible for <em>β</em>-thalassemia in Batna region. According to our results, the nonsense mutation at codon 39 (C&gt;T) is the most frequent mutation type in our province, the same as other geographical regions of Algeria. It is followed by codon 54(-T), detected in a second Algerian family (the proband was homozygote), and the first association of Hb Knossos: codon 27 (G&gt;T) allele with codon 39 (C&gt;T) in the Algerian population. Here we reportws also the association of codon 39(C&gt;T) with IVS-I-110 (G&gt;A). Our preliminary results show the predominance of codon 39 (c&gt;t) mutation of <em>HBB</em> gene in Batna region.

scholarly journals SPECTRUM OF BETA GLOBIN GENE MUTATIONS IN EGYPTIAN CHILDREN WITH β- THALASSEMIA

2014 ◽  
Vol 6 (1) ◽  
pp. e2014071 ◽  
Author(s):  
MR El-Shanshory ◽  
Adel Abd Elhaleim Hagag
Keyword(s):  
Dna Sequencing ◽  
Blood Count ◽  
Complete Blood Count ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Direct Dna Sequencing ◽  
Rare Mutations ◽  
Egyptian Children

Background: The molecular defects resulting in β-thalassemia phenotype, in the Egyptian population show a clear heterogenic mutations pattern. PCR based techniques, including direct DNA sequencing are effective on the molecular detection and characterization of these mutations. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis.The aim of the work: was to evaluate the different β-globin gene mutations in one hundred Egyptian children with β-thalassemia. Patients and Methods: One hundred of β-thalassemic Egyptian children, covering most Egyptian Governorates. All patients were subjected to meticulous history taking, clinical examinations, complete blood count, complete blood count, hemoglobin electrophoresis, serum ferritin and direct fluorescent DNA sequencing of β-globin gene to detect the frequency of different mutations in studied patients. Results: The most common mutations among patients were IVS I-110(G>A) 48%, IVS I-6(T>C) 40%, IVS I-1(G>A)19%,IVS I-5(G>C)10%, IVS II-848 (C>A) 9%, IVS II-745(C>G) 8%, IVS II-1(G>A) 7%, codon"Cd"39(C> T) 4%,-87(C>G) 3% and the rare mutations were: Cd37 (G>A), Cd8 (-AA), Cd29(-G), Cd5 (-CT), Cd6(-A), Cd8/9(+G), Cd 106/107(+G), Cd27(C>T), IVS II-16(G> C), Cd 28 (-C), Cap+1(A>C), -88(C>A), all of these rare mutations were present in 1%. There was considerable variation in phenotypic severity among patients resulting from interaction of different β° and β+mutations, 79(79%) patients were thalassemia major (TM) and 21(21%) were thassemia intermedia (TI), without genotype phenotype association. Conclusion: Direct DNA sequencing provides insights for the frequency of different mutations in β- thalassemic patients including rare and /or unknown ones.

Beta-globin gene cluster haplotypes in Afro-Uruguayans from two geographical regions (South and North)

2010 ◽  
Vol 22 (1) ◽  
pp. 124-128 ◽  
Author(s):  
Julio Da Luz ◽  
Elza Miyuki Kimura ◽  
Fernando Ferreira Costa ◽  
Maria de Fatima Sonati ◽  
Mónica Sans
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Geographical Regions

Major Beta-Globin Gene Mutations in Eastern India and Their Associated Haplotypes

1999 ◽  
Vol 49 (4) ◽  
pp. 232-235 ◽  
Author(s):  
Aditi Bandyopadhyay ◽  
Sanmay Bandyopadhyay ◽  
Manju Dutta Chowdhury ◽  
Uma B. Dasgupta
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Beta Globin ◽  
Eastern India ◽  
Beta Globin Gene

Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major

2019 ◽  
Vol 44 (2) ◽  
pp. 126-129
Author(s):  
Hatice Çevirici ◽  
Can Acıpayam ◽  
Ebru Dündar Yenilmez ◽  
Fatma Burcu Belen ◽  
Esra Pekpak ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Beta Thalassemia Major ◽  
Mutation System

Abstract Objectives This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaraş region were planned. Materials and methods The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n=8). Other mutations are according to frequency order IVS-II-745 (n=3), codon 44 (n=3), codon 15 (n=3), IVS-I-110/IVS-I-1 (n=3), codon 5 (n=2), IVS-I-1 (n=2), codon 8/IVS-II-1 (n=2), codon 44/codon 15 (n=2), IVS-II-1 (n=1), codon 39 (n=1), IVS-I-6/codon 5 (n=1), codon 9/10 (n=1), IVS-I-110/codon 39 (n=1), IVS-I-5/IVS-II-1 (n=1), codon 39/IVS-II-745 (n=1). Conclusions According to the results of our study beta-thalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling.

scholarly journals Beta-globin gene mutations in children with beta-thalassemia major from Sanliurfa province, Turkey

2011 ◽  
Vol 2011 (4) ◽  
pp. 264-268 ◽  
Author(s):  
Ali Aycicek ◽  
Ahmet Koc ◽  
Zeynep Canan Ozdemir ◽  
Hasan Bilinc ◽  
Abdurrahim Kocyigit ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Beta Globin Gene ◽  
Beta Thalassemia Major
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