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Oueslati S.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Hadj Fredj S.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Dakhlaoui B.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Othmani R.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | And 2 more authors.
Pathologie Biologie | Year: 2015

Purpose: In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β 1), in the phenotypic variability of CF patients. Patients and methods: The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method. Results: We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P = 0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P = 0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms. Conclusion: On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis. © 2015 Elsevier Masson SAS.


Jouini L.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Sahli C.A.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Laaouini N.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | Ouali F.,Biochemistry Laboratory Research Laboratory Haemoglobinopathies and Cystic Fibrosis | And 12 more authors.
Molecular Biology Reports | Year: 2013

Beta-thalassemia is the most frequent hereditary blood disorder in Tunisia because of its geographic localization and history. This pathology is characterized by a complex multisystem process with genetic and biochemical interactions. The aim of this work was to establish phenotype/genotype association through studying the distribution and the relationship between β-Thalassemia and a-thalassemia mutations and three polymorphic markers: the C→ T polymorphism at-158 of the Gc gene, the RFLP haplotype and the repeated sequence (AT)xTy in the b globin silencer, in two groups of β-Thalassemia major and β-Thalassemia intermedia (TI) patients. Statistical analysis has shown that moderate expression seen in TI patients was significantly associated to b→-87 (C→ G),-30 (T→ A) and IVSI-6 (T→ C) mutations, haplotypes VIII, IX and Nb and to XmnI polymorphism. The regression analysis of combined genotypes (mutation/XmnI/RFLP haplotype) revealed that they contribute to justify 17.1 % of clinical expression diversity (p<0.05). Among the studied genotypes the XmnI polymorphism seems to be the most determinant modulating factor, followed by the β-Thalassemia mutation and RFLP haplotype. Our findings highlight the heterogeneity of molecular background of β-Thalassemia that would be responsible of clinical variability. © 2013 Springer Science+Business Media Dordrecht.

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