North African Populations Research Articles

δ0-Thalassemia in cis of βKnossos globin gene: first homozygous description in thalassemia intermedia Libyans and first combination with codon 39 (C→T) in thalassemia intermedia Tunisian patients

β-Thalassemia is the most common disease among hemoglobinopathies in North African and Arab populations. In the present study we report the first description of the β-Knossos codon27 (G→T) (βKnossos) allele in cis with the δ059 (-A) mutation in thalassemia intermedia patients in Tunisia and Libya. This identification was carried out by sequencing analysis of the whole coding regions of the δ- and β-globin genes. We noted that heterozygous inheritance of the βKnossos mutation results in a mild β-thalassemia phenotype with a low level of HbA2 while homozygous leads to intermediate β-thalassemia with an atypical high performance liquid chromatogram showing a complete absence of HbA2 and HbF. Compound heterozygosity of the βKnossos with β0 codon39 (C→T) is identified in a Tunisian proband for the first time and gives rise to a mild phenotype. In both families, the δ0 codon59 (-A) and the βKnossos alleles were found to be associated with a single Mediterranean β-haplotype I similar to that observed in previous reports from Algeria, Egypt, Cyprus, and Turkey. The chromosome supporting the βKnossos and the δ0 codon59 (-A) alleles seems to be of a single Mediterranean origin. Premarital screening studies in families in which only one of the parents has typical aspects of β-thalassemia trait and the other has a normal HbA2 level associated with abnormal red cell indices becomes a necessity to avoid missing thalassemia carriers.

Gramsci reloaded dans la condition postcoloniale : identité nationale et désidentification dans le « linguistic turn »

The present paper offers a postcolonial ‘conversion’ of Gramsci’s linguistic approach to political and cultural practice and theory. The ethnolinguistic and sociocultural divide which Gramsci focuses on in relation to the question of Southern Italy reemerges in our times, in the context of the globalized postcolonial and migratory conditions in the Western metropoles. Particularly in France, where the memory of the Algerian war of independence is still alive, the established hegemony is confronted with the presence of a North African migratory population and the resulting presence of Arabic language varieties. This situation represents a permanent provocation to the hegemonic linguistic and sociocultural codes and it reveals the anachronistic character of the notion of national identity itself. In the light of the neo-Gramscian “subalternist” perspective, the disidentificatory potential of this complex contact situation can be identified as the key to a postcolonial conception of a counter-hegemonic project within the framework of a revolutionary socialist strategy for the 21st century.

Geographical patterns of Kaposi’s sarcoma, nonHodgkin lymphomas, and cervical cancer associated with HIV infection in five African populations

The objective of this study is to describe the most recent geographical patterns of incidence of AIDS-related cancers, Kaposi's sarcoma (KS), nonHodgkin lymphoma (NHL), and cervical cancer in North African and subSaharan African populations. Data were extracted for the period 1998-2002 from five African population-based cancer registries: Kyadondo, Harare, Setif, Sousse, and Gharbiah. Age-standardized rates were calculated using the African standard population; a comparison was made between these populations by computing the standardized incidence ratio and 95% confidence intervals. The KS rate was found to be significantly higher in men than in women, and higher in Harare (women: 26.3/100,000; men: 50.4/100,000) and Kyadondo (women: 23.6/100,000; men: 30.2/100,000) than in the North African sites for both sexes (<0.3/100,000). In addition, the KS rate in women from Harare was similar to that for Kyadondo. Gharbiah presented the highest rates for NHL (women: 7 per 100,000; men: 11.9/100,000) for both sexes. We observed that Harare and Kyadondo had similar age-specific incidence in the high-risk age group for HIV/AIDS (15-49 years), and these rates were 4.5-fold higher in subSaharan populations than those in the North African sites. Thus, it was observed that the pattern of HIV prevalence is variable with the lowest prevalence in North African countries, intermediate prevalence in Uganda, and the highest prevalence in Zimbabwe. Our findings show that the incidence of NHL and cervical cancer, considered to be HIV/AIDS-related cancers, does not follow the pattern of HIV prevalence in the five studied African populations. Thus, the highest NHL incidence rate in both sexes in Gambia may be explained, at least in great part, by the highest hepatitis C virus prevalence observed there. Indeed, factors other than HIV infection likely contribute to their geographical patterns.

Sahara: Barrier or corridor? Nonmetric cranial traits and biological affinities of North African late holocene populations

The Garamantes flourished in southwestern Libya, in the core of the Sahara Desert ~3,000 years ago and largely controlled trans-Saharan trade. Their biological affinities to other North African populations, including the Egyptian, Algerian, Tunisian and Sudanese, roughly contemporary to them, are examined by means of cranial nonmetric traits using the Mean Measure of Divergence and Mahalanobis D(2) distance. The aim is to shed light on the extent to which the Sahara Desert inhibited extensive population movements and gene flow. Our results show that the Garamantes possess distant affinities to their neighbors. This relationship may be due to the Central Sahara forming a barrier among groups, despite the archaeological evidence for extended networks of contact. The role of the Sahara as a barrier is further corroborated by the significant correlation between the Mahalanobis D(2) distance and geographic distance between the Garamantes and the other populations under study. In contrast, no clear pattern was observed when all North African populations were examined, indicating that there was no uniform gene flow in the region.

Network-Level and Population Genetics Analysis of the Insulin/TOR Signal Transduction Pathway Across Human Populations

Genes and proteins rarely act in isolation, but they rather operate as components of complex networks of interacting molecules. Therefore, for understanding their evolution, it may be helpful to take into account the interaction networks in which they participate. It has been shown that selective constraints acting on genes depend on the position that they occupy in the network. Less understood is how the impact of local adaptation at the intraspecific level is affected by the network structure. Here, we analyzed the patterns of molecular evolution of 67 genes involved in the insulin/target of rapamycin (TOR) signal transduction pathway. This well-characterized pathway plays a key role in fundamental processes such as energetic metabolism, growth, reproduction, and aging and is involved in metabolic disorders such as obesity, insulin resistance, and diabetes. For that purpose, we combined genotype data from worldwide human populations with current knowledge of the structure and function of the pathway. We identified the footprint of recent positive selection in nine of the studied genomic regions. Most of the adaptation signals were observed among Middle East and North African, European, and Central South Asian populations. We found that positive selection preferentially targets the most central elements in the pathway, in contrast to previous observations in the whole human interactome. This observation indicates that the impact of positive selection on genes involved in the insulin/TOR pathway is affected by the pathway structure.

Frequencies and ethnic distribution of ABO and Rh(D) blood groups in Mauritania: results of first nationwide study

There is no data available on the ABO/Rh(D) frequencies in the Mauritanian population. We retrospectively analysed records of a 5-year database that contained ABO/Rh phenotype and ethnic origin of 10 116 volunteers giving blood at the national blood transfusion centre to derive the frequencies of ABO/Rh(D) groups in the Mauritanian population. The two race categories in the country and their sub-ethnic groups: the Moors (whites and black) and the black Africans (Pulhars, Soninkes and Wolof) were included in this study. Globally, group O had the highest frequency (49.10%) followed by A (28.28%), B (18.56%) and AB (4.05%). This order more common in North African populations was found in four of the five ethnic groups composing our population. Allele frequencies were, respectively, 70.20%, 17.74% and 12.04% giving the same order of O > A > B. We observed no significant variation in these frequencies between the different ethnic groups. Rhesus study showed that with a percentage of 94.23% Rh(D) positive is by far the most prevalent, while Rh(D) negative is present only in 5.77% of the total population. This frequency distribution supports the mixed-race composition of the Mauritanian population.

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033_3036del AATT and 3216_3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A>G). Each mutation is associated to a specific haplotype. This is the first report of screening for mutations of AGL gene in the Tunisian population.

Primary immunodeficiencies in highly consanguineous North African populations

The study of inbred populations has contributed remarkably to the description of new autosomal recessive primary immunodeficiencies (PIDs). Here, we examine the pattern of PIDs in North African populations and assess the impact of highly prevalent consanguinity. This review reports on the current status of pediatricians' awareness of PIDs in Egypt, Morocco, and Tunisia, where awareness of PIDs is relatively recent. The phenotypic distribution of PIDs is reported and compared among the three countries and with other populations. Data analysis reveals a prevalence of autosomal recessive forms and a peculiar distribution of major PID categories, particularly more combined immunodeficiencies than antibody disorders. In these endogamous communities, molecular diagnosis is critical to developing a genetic-based preventive approach. The organization of diagnosis and care services in these resource-limited settings faces many obstacles. Autosomal recessive PIDs are overrepresented; thus, it is critical to continue investigation of these diseases in order to better understand the underlying mechanisms and to improve patient care.

Allele frequencies for 15 autosomal STR markers in the Libyan population

Background: Until recently Libya remained the only state of the Maghreb without genetic evolution investigations of the genetic landscape of its population. Apart from some studies of Libyan Jews and Libyan Tuareg, only two recent investigations, based on autosomal ancestry informative SNP and mitochondrial DNA markers, have concerned the general Libyan population.Aim: The present work is the first to describe STR markers polymorphism in the general Libyan population in order to contribute to the analysis of its genetic diversity for forensic purposes.Subjects and Methods: Allele frequencies for 15 STR loci (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, VWA, D2S1338, D19S433) included in the AmpFlSTR Identifiler kit were determined in a sample of 99 unrelated individuals originating from the general Libyan population.Results: No deviations from Hardy–Weinberg equilibrium were observed, with the exception of CSF1PO. Genetic parameters of forensic interest such as combined power of discrimination (PD) and combined probability of exclusion (PE) showed values higher than 0.999. Comparisons with data from other North African populations showed significant differences between Libyans and Tunisians, Moroccans and Egyptians.Conclusions: The high informativity observed for these 15 STRs in a Libyan population demonstrates their usefulness for forensic and parental purposes.

X-chromosomal haplotype frequencies of four linkage groups in a North African population

Twelve X-STR loci in four clusters of linked markers were typed in a sample of 97 Moroccan men from different ethnic groups (Arabs, Berbers and Sahrawi) using the Investigator Argus X-12 Kit. Forensic statistical parameters for these 12 X-chromosome STR, particularly the haplotypes of the four closely linked X-STR trios, indicated that they are highly informative for anthropological and forensic purposes in Moroccan population.

Human Alu Insertion Polymorphisms in North African Populations

Several features make Alu insertions a powerful tool used in population genetic studies: the polymorphic nature of many Alu insertions, the stability of an Alu insertion event and, furthermore, the ancestral state of an Alu insertion is known to be the absence of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. This study analyses seven Alu insertion polymorphisms in a sample of 297 individuals from the autochthonous population of Tunisia (Thala, Smar, Zarzis, and Bou Salem) and Libya with the aim of studying their genetic structure with respect to the populations of North Africa, Western, Eastern and Central Europe. The comparative analyses carried out using the MDS and AMOVA methods reveal the existence of spatial heterogeneity, and identify four population groups. Study populations (Libya, Smar, Zarzis, and Bou Salem) are closest to North African populations whereas Thala is isolated and is closest to Western European populations.

Human Alu Insertion Polymorphisms in North African Populations

Several features make Alu insertions a powerful tool used in population genetic studies: the polymorphic nature of many Alu insertions, the stability of an Alu insertion event and, furthermore, the ancestral state of an Alu insertion is known to be the absence of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. This study analyses seven Alu insertion polymorphisms in a sample of 297 individuals from the autochthonous population of Tunisia (Thala, Smar, Zarzis, and Bou Salem) and Libya with the aim of studying their genetic structure with respect to the populations of North Africa, Western, Eastern and Central Europe. The comparative analyses carried out using the MDS and AMOVA methods reveal the existence of spatial heterogeneity, and identify four population groups. Study populations (Libya, Smar, Zarzis, and Bou Salem) are closest to North African populations whereas Thala is isolated and is closest to Western European populations. In conclusion, Results of the present study support the important role that migratory movements have played in the North African gene pool, at least since the Neolithic period.

Bone scan findings in a North African ethnic group and relation to PSA levels and Gleason score of the biopsy

ObjectiveA number of large-scaled studies carried out in western countries have proven a positive relationship between serum prostate specific antigen (PSA) level and prevalence of positive bone scan findings, in newly diagnosed prostate cancer patients. The aim of our study is to verify that the tendency occurs as well in North-African population, as well as to establish a possible correlation between PSA level, bone scan result, and Gleason score. Material and methodsRecords of 348 patients diagnosed to have prostatic adenocarcinoma were reviewed retrospectively for bone scan results, PSA levels, and Gleason score. Statistical analyses were performed using the Fisher's exact test, by a statistical software (statistical package for the social sciences “SPSS”, version 11.5.1, Chicago, IL) with differences at P<0.05 considered significant. ResultsBased on positive bone scintigraphy 102 patients were proven to have bone metastases. None of these patients had a PSA level of lower than 10ng/ml. Six metastatic patients had PSA level between 11 and 20ng/ml. 45 metastatic cases had serum PSA between 21 and 100. Concerning PSA level over 101ng/ml, 51 men had positive bone scan. ConclusionBased on the PSA level, the likelihood of positive bone scan result can be postulated. According to PSA levels, staging investigations can be more selective for our patients. The risk of positive bone scan is so low that it is not required for patients with PSA level lower than 10ng/ml. On the other hand, on studying the correlation between Gleason score and PSA level or bone scan results, no statistically significant relationship was established.

Social aggregation behaviour in the North African amphisbaenian Trogonophis wiegmanni

The ecology and behaviour of Amphisbaenians is poorly known due to their fossorial habits. However, amphisbaenians are often found under rocks where they thermoregulate, and probably engage in social interactions. We describe aggregations under rocks in a North African population of the little studied amphisbaenian Trogonophis wiegmanni. These observations could be used to make initial inferences about the social behaviour of this amphisbaenian. Results showed that amphisbaenians were sometimes found in pairs under the same rock. However, these aggregations were not random. Adult males were only found together with adult females, but we did not find pairs of adult males or adult females. This might suggest that there is intra-sexual intolerance, and that adult individuals of the same sex do not occupy the same rock space. Pairs of adults were more frequently found in spring than in autumn, coinciding with the mating season. Also, juvenile individuals were often found together with an adult, but juveniles tended to be more often with an adult female than with an adult male. This might indicate that juveniles are allowed to remain with their parents until they are older, which might enhance offspring fitness by providing access to high-quality habitats.

Activity patterns in the Sahara Desert: An interpretation based on cross‐sectional geometric properties

The Garamantian civilization flourished in modern Fezzan, Libya, between 900 BC and 500 AD, during which the aridification of the Sahara was well established. Study of the archaeological remains suggests a population successful at coping with a harsh environment of high and fluctuating temperatures and reduced water and food resources. This study explores the activity patterns of the Garamantes by means of cross-sectional geometric properties. Long bone diaphyseal shape and rigidity are compared between the Garamantes and populations from Egypt and Sudan, namely from the sites of Kerma, el-Badari, and Jebel Moya, to determine whether the Garamantian daily activities were more strenuous than those of other North African populations. Moreover, sexual dimorphism and bilateral asymmetry are assessed at an intra- and inter-population level. The inter-population comparisons showed the Garamantes not to be more robust than the comparative populations, suggesting that the daily Garamantian activities necessary for survival in the Sahara Desert did not generally impose greater loads than those of other North African populations. Sexual dimorphism and bilateral asymmetry in almost all geometric properties of the long limbs were comparatively low among the Garamantes. Only the lower limbs were significantly stronger among males than females, possibly due to higher levels of mobility associated with herding. The lack of systematic bilateral asymmetry in cross-sectional geometric properties may relate to the involvement of the population in bilaterally intensive activities or the lack of regular repetition of unilateral activities.

Multilocus species tree analyses resolve the radiation of the widespread Bufo bufo species group (Anura, Bufonidae)

New analytical methods are improving our ability to reconstruct robust species trees from multilocus datasets, despite difficulties in phylogenetic reconstruction associated with recent, rapid divergence, incomplete lineage sorting and/or introgression. In this study, we applied these methods to resolve the radiation of toads in the Bufo bufo (Anura, Bufonidae) species group, ranging from the Iberian Peninsula and North Africa to Siberia, based on sequences from two mitochondrial and four nuclear DNA regions (3490basepairs). We obtained a fully-resolved topology, with the recently described Bufo eichwaldi from the Talysh Mountains in south Azerbaijan and Iran as the sister taxon to a clade including: (1) north African, Iberian, and most French populations, referred herein to Bufo spinosus based on the implied inclusion of populations from its type locality and (2) a second clade, sister to B. spinosus, including two sister subclades: one with all samples of Bufo verrucosissimus from the Caucasus and another one with samples of B. bufo from northern France to Russia, including the Apennine and Balkan peninsulas and most of Anatolia. Coalescent-based estimations of time to most recent common ancestors for each species and selected subclades allowed historical reconstruction of the diversification of the species group in the context of Mediterranean paleogeography and indicated a long evolutionary history in this region. Finally, we used our data to delimit the ranges of the four species, particularly the more widespread and historically confused B. spinosus and B. bufo, and identify potential contact zones, some of which show striking parallels with other co-distributed species.

Impact psychosocial du cancer sur les adolescents et les jeunes adultes marocains : expérience de l’Institut national d’oncologie de Rabat

Cancer is an uncommon disease; its imaginary concept is very particularly on adolescent and young adults. It disturbs their lives on the whole. The purpose of this study is to describe the specific psychosocial effects of cancer on adolescent and young adults in Moroccan population in order to help physicians educate and counsel future young patients and their families. During the period from January to July 2009, patients aged between 15 and 30 years with histologically confirmed cancer, were prospectively interviewed by a questionnaire covering socio-epidemiological characteristics, repercussions of disease on physical, psychic, sexual and religious practices. The aim of this study is to determine the impact of cancer, particularly on this young North African population, which is underrepresented in the psychosocial cancer literature.

Phylogeography of the red coral (Corallium rubrum): inferences on the evolutionary history of a temperate gorgonian

The red coral Corallium rubrum (Cnidaria, Octocorallia) is an exploited, long-lived sessile species from the Mediterranean Sea and the adjacent coastline in the Atlantic Ocean. Surveys of genetic variation using microsatellites have shown that populations of C. rubrum are characterized by strong differentiation at the local scale but a study of the phylogeography of this species was still lacking. Here, we used seven polymorphic microsatellite loci, together with sequence data from an intron of the elongation factor 1 (EF1) gene, to investigate the genetic structure of C. rubrum across its geographical range in the western Mediterranean Sea and in the Adriatic Sea. The EF1 sequences were also used to analyse the consequences of demographic fluctuations linked with past environmental change. Clustering analysis with microsatellite loci highlighted three to seven genetic groups with the distinction of North African and Adriatic populations; this distinction appeared significant with AMOVA and differentiation tests. Microsatellite and EF1 data extended the isolation by distance pattern previously observed for this species at the western Mediterranean scale. EF1 sequences confirmed the genetic differentiation observed between most samples with microsatellites. A statistical parsimony network of EF1 haplotypes provided no evidence of high sequence divergence among regions, suggesting no long-term isolation. Selective neutrality tests on microsatellites and EF1 were not significant but should be interpreted with caution in the case of EF1 because of the low sample sizes for this locus. Our results suggest that recent Quaternary environmental fluctuations had a limited impact on the genetic structure of C. rubrum.

Le foyer du « Toit familial » et l'arrivée des Juifs d'Afrique du Nord en France (1954-1975)

This article is a study of North African Jewish students who lived in the “Toit familial” Home in Paris between 1954 and 1975. This home, which belonged to the Jewish Social Action Committee in Paris (CASIP), was part of the policy adopted by French Jewish organizations to welcome the North African Jewish population to France. The registration files of the students, as well as interviews with former residents help us understand the conditions of their immigration. This article paints a portrait of the residents of the Home and considers their motivations in coming to France to study at universities. The “Toit familial” was the first home for most of these youths upon their arrival in France, and it was thus understood to be a transition between their country of origin and their new home.

Resultados de gammagrafías óseas en individuos de etnia norteafricana y su relación con los niveles de APE y con la escala de Gleason obtenida en biopsia

Objective A number of large-scaled studies carried out in western countries have proven a positive relationship between serum prostate specific antigen (PSA) level and prevalence of positive bone scan findings, in newly diagnosed prostate cancer patients. The aim of our study is to verify that the tendency occurs as well in north-african population, as well as to establish a possible correlation between PSA level, bone scan result, and Gleason score. Material and methods Records of 348 patients diagnosed to have prostatic adenocarcinoma were reviewed retrospectively for bone scan results, PSA levels, and Gleason score. Statistical analyses were performed using the Fisher exact test, by a statistical software (statistical package for the social sciences “SPSS”, version 11.5.1, Chicago, IL) with differences at P < 0,05 considered significant. Results Based on positive bone scintigraphy 102 patients were proven to have bone metastases. None of these patients had a PSA level of less than 10 ng/ml. Six metastatic patients had PSA level between 11 and 20 ng/ml. 45 metastatic cases had serum PSA between 21 and 100. Concerning PSA level over 101 ng/ml, 51 men had positive bone scan. Conclusion Based on the PSA level, the likelihood of positive bone scan result can be postulated. According to PSA levels, staging investigations can be more selective for our patients. The risk of positive bone scan is so low that it is not required for patients with PSA level less than 10 ng/ml. On the other hand, on studying the correlation between Gleason score and PSA level or bone scan results, no statistically significant relationship was established.