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Background: Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities. Method: We report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory. Results: We identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic epidermolysis bullosa and xeroderma pigmentosa. Conclusion: This report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.
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Jerba is an island situated in the South - East of Tunisia were some ethnic groups (Arabs, Berbers, Blacks, Jewishs and others) cohabit for centuries. The religion and cultural differences have represented an obstacle to a mixture between these groups.
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Objectives Tunisia has been a crossroads for people from Africa, Europe, and the Middle East since prehistoric times. At present, it is inhabited by two main ethnic groups, Arabs and Berbers, and several minorities. This study aims to advance knowledge regarding their genetic structure using new population samplings and a genome-wide approach. Materials and Methods We investigated genomic variation, estimated ancestry components and dated admixture events in three Berber and two Arab populations from Southern Tunisia, mining a dataset including Middle Eastern, sub-Saharan, and European populations. Results Differences in the proportion of North African, Arabian, and European ancestries and the varying impact of admixture and isolation determined significant heterogeneity in the genetic structure of Southern Tunisian populations. Admixture time estimates show a multilayer pattern of admixture events, involving both ethno-linguistic groups, which started around the mid XI century and lasted for nearly five centuries. Discussion Our study provides evidence that the relationships between genetic and cultural diversity of old and new inhabitants of North Africa in southern Tunisia follow different patterns. The Berbers seem to have preserved a significant part of their common genomic heritage despite Islamization, Arab cultural influence, and linguistic diversity. Compared to Morocco and Algeria, southern Tunisian Arabs have retained a higher level of Arabian ancestry. This is more evident in the semi-nomad R'Baya, who have kept their original Bedouin lifestyle, than in the population from Douz, who have undergone multiple events of stratification and admixture.
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The central concern of this paper is to illustrate how four apparently unrelated classes of variables — dental, perceptual, ethnic origin, and other — can be comprehended within a single parsimonious space, even though some of the measures were qualitative, others quantitative. Thirty-five hundred Israeli villagers of varied ethnic origin were examined on several aspects of oral epidemiology, a battery of tests relating to estimation of number, and miscellaneous traits, including eye colour, tasting PTC, tongue rolling, etc. Significant differences between the six Jewish groups — Yemen, Cochin, Kurdistan, Libya, Berber, and Djerba — were found in the scores of most variables. By the use of the Smallest Space Analysis, distances were established between the different ethnic groups which took into account the complex interrelations in each of 3,500 individual subjects of all 45 categories of 16 variables. A three-dimensional model of the interrelations between the ethnic groups and the trait categories was constructed from the 45 sets of coordinates which resulted from the iterative computer procedure. The ethnic group pairs at greatest distance from each other were found to be Kurdistan:Cochin, then Kurdistan:Djerba, followed by Djerba:Yemen. It is suggested that multivariate analyses of the type presented here, and including interrelations between genetic markers, anthropometric and behavioral variables, would deepen our understanding of the present structure and possible backgrounds of populations of diverse origins.
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