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Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance
The frequencies of low-activity alleles of glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence of malaria. These “deficiency” alleles are thought to provide reduced… Expand
MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH
We present the characterization of the molecular spectrum and frequency data of α-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (γ4) measurement for… Expand
Candida glabrata strain relatedness by new microsatellite markers
- S. Abbès, H. Sellami, +7 authors A. Ayadi
- Medicine, Biology
- European Journal of Clinical Microbiology…
We investigated six microsatellite markers to type 85 unrelated and 118 related isolates of Candida glabrata from 36 patients. Three new markers were selected from the complete sequence of CBS138 and… Expand
Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population
Abstract Human DNA repair mechanisms protect the genome from DNA damage caused by endogenous and environmental agents. Polymorphisms in DNA repair genes and differences in repair capacity between… Expand
Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.
We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4)… Expand
The spectrum of beta thalassaemia mutations in the UAE national population.
- R. Quaife, L. al-Gazali, +4 authors J. Old
- Biology, Medicine
- Journal of medical genetics
- 1 January 1994
The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique… Expand
The spectrum of thalassaemia mutations in the UAE national population
The a1 thalassaemia alleles in 501p thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the… Expand
Hb H Disease Among Tunisians: Molecular Characterization of α‐Thalassemia Determinants and Hematological Findings
α‐Thalassemia (thal) is one of the most common genetic disorders in man. It results from defects in the α‐globin genes, and is characterized by absent or decreased rate of α‐globin synthesis in fet...
Frequency and spectrum of hemochromatosis mutations in Tunisia.
- A. Zorai, C. Harteveld, +4 authors P. Giordano
- Biology, Medicine
- The hematology journal : the official journal of…
The occurrence of the C282Y and H63D mutations of the HFE gene, responsible for toxic iron overload in the liver (hereditary hemochromatosis), was still unknown in Tunisia. We report the screening of… Expand
Contribution to the Description of the β‐Thalassemia Spectrum in Tunisia and the Origin of Mutation Diversity
We determined the spectrum of β‐thalassemia (thal) mutations in 118 affected unrelated patients with different forms of β‐thal. Using a combination of reverse dot–blot analysis, denaturing gradient… Expand