SummaryOver the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-scale, dynamic population movements over the last 10,000 years, such that ancestry across present-day populations is likely to be a mixture of several ancient groups [1, 2, 3, 4, 5, 6, 7]. While these efforts are bringing the details of West Eurasian prehistory into increasing focus, studies aimed at understanding the processes behind the generation of the current West Eurasian genetic landscape have been limited by the number of populations sampled or have been either too regional or global in their outlook [8, 9, 10, 11]. Here, using recently described haplotype-based techniques [11], we present the results of a systematic survey of recent admixture history across Western Eurasia and show that admixture is a universal property across almost all groups. Admixture in all regions except North Western Europe involved the influx of genetic material from outside of West Eurasia, which we date to specific time periods. Within Northern, Western, and Central Europe, admixture tended to occur between local groups during the period 300 to 1200 CE. Comparisons of the genetic profiles of West Eurasians before and after admixture show that population movements within the last 1,500 years are likely to have maintained differentiation among groups. Our analysis provides a timeline of the gene flow events that have generated the contemporary genetic landscape of West Eurasia.
This study was undertaken to ascertain if a relationship existed between oxidative status and polymorphisms of microsomal epoxide hydrolase X1 (EPHX1), glutathione S-transferase P1 (GSTP1), GSTM1, and GSTT1 in chronic obstructive pulmonary disease (COPD). Erythrocyte glutathione peroxidase (GSH-px), glutathione reductase (GR), superoxide dismutase (SOD), catalase (CAT), and plasma GST activities and total antioxidant status (TAS) as antioxidative stress markers were determined and compared either with individual and combined genotypes of EPHX1 exon 3, GSTP1 exon 5, GSTM1, and GSTT1 polymorphisms in COPD patients and healthy controls from the central area of Tunisia. Statistical data processing revealed significantly lower GSH-px, GR, SOD, CAT, GST, and TAS values in COPD patients in comparison to the control group (P < .001). As for genotypes, there was a no significant association in each of the 6 parameters and individual genotypes (P > .05). A significant correlation between the studied parameters and combined null GSTM1/null GSTT1 (GSH-px: P < .001, GR: P = .026, CAT: P = .018, GST: P = .022, TAS: P = .046), His113His EPHX1/null GSTM1 (GSH-px: P = .001, GST: P = .0012, TAS: P = .013), His113His EPHX1/Val105Val GSTP1 (GSH-px: P = .048, CAT: P = .026, GST: P = .031), and null GSTM1/Val105Val GSTP1 (GSH-px: P = .011, GR: P = .0028, GST: P = .0054, TAS: P = .032) was found in patients. In conclusion, combined genetic polymorphisms of GSTM1, GSTT1, GSTP1, and EPHX1 may have favorable effects on redox balance in COPD patients.
Hemolytic anemias are very common diseases. Among these diseases, hemoglobinopathies are widely spread throughout the Mediterranean Basin, including North Africa (Tunisia, Algeria and Morocco). Their severity and disabling nature make them a major public health problem. This study includes our data on the Tunisian hemoglobinopathies together with all the reports concerning epidemiological, clinical and molecular aspects in Algerian and Moroccan populations. Investigation methods begin with the application of several techniques for hemoglobin (Hb) analyses [electrophoresis and isoelectric focusing (IEF), micro-chromatography assay] of anemic patients in various hospital departments. Molecular investigation by DNA analyses completes the hematological and biochemical studies using polymerase chain reaction (PCR) followed by enzymatic digestion and/or denaturing gradient gel electrophoresis (DGGE), single strand conformation polymorphism (SSCP) and sequencing. These methods offer screening for a large number of families affected by sickle cell disease and thalassemia. In Tunisia, Algeria, and Morocco, more than 45 mutations have been identified on the beta-globin gene. The most common in Tunisia and in Algeria are codon 39 (C>T) and IVS-I-110 (G>A), which together account for more than 50% of all mutations. In Morocco, the predominant mutations are codon 39 and frameshift codon (FSC) 8 (-AA). The identification of molecular defects in the betagene contributes to the development of diagnostic tests (prenatal diagnosis), and gives us the opportunity to help many couples. Our studies of the haplotypes of the beta(S), codon 39 and IVS-I-110 origins allowed the hypothesis of a Benin origin for beta(S), a local North African origin for codon 39 and an Eastern Mediterranean origin for IVS-I-110. The analysis of polymorphisms associated with a moderate phenotype of beta-thalassemia (beta-thal) and sickle cell disease in North Africa has shown, in several cases, a strong association with some mutations and restriction fragment length polymorphisms (RFLP) haplotype IX on the beta-globin locus and the -158 (C>T) polymorphism in 5' on the (G)gamma-globin gene. Finally, more knowledge on the regulation of the beta-globin locus may contribute to the improvement of investigation, monitoring and treatment of hemoglobinopathies.
Background: AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. Methods: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards.
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