Association between clinical expression and molecular heterogeneity in β-thalassemia Tunisian patients
| Autor: | Amina Bibi, R. Othmeni, B. Dakhlaoui, Hajer Siala, Latifa Jouini, Chaima Abdelhafidh Sahli, Mariem Becher, Taieb Messaoud, S. Hadj Fredj, Faida Ouali, F. Ouennich, N. Laaouini, R. Hafsia, Fattoum S, Nour El Houda Toumi, I. Ben Youssef |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
congenital hereditary and neonatal diseases and abnormalities Tunisia Adolescent Thalassemia beta-Globins Biology Genetic Heterogeneity Hemoglobins Young Adult alpha-Thalassemia hemic and lymphatic diseases Gene Order Genotype Genetics medicine Humans gamma-Globins Globin Nucleotide Motifs Child Promoter Regions Genetic Molecular Biology Gene Genetic Association Studies Polymorphism Genetic beta-Thalassemia Haplotype General Medicine Middle Aged medicine.disease Phenotype Molecular biology Haplotypes Genetic marker Child Preschool Mutation Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Molecular Biology Reports. 40:6205-6212 |
| ISSN: | 1573-4978 0301-4851 |
| DOI: | 10.1007/s11033-013-2732-y |
| Popis: | 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 α-thalassemia mutations and three polymorphic markers: the C → T polymorphism at −158 of the Gγ gene, the RFLP haplotype and the repeated sequence (AT)xTy in the β 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 β+ −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 |
| Databáze: | OpenAIRE |
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