Title |
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
|
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Published in |
Orphanet Journal of Rare Diseases, August 2012
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DOI | 10.1186/1750-1172-7-52 |
Pubmed ID | |
Authors |
Lilia Romdhane, Rym Kefi, Hela Azaiez, Nizar Ben Halim, Koussay Dellagi, Sonia Abdelhak |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 25% |
United States | 1 | 25% |
Unknown | 2 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 50% |
Members of the public | 2 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 67 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 13 | 19% |
Student > Master | 8 | 12% |
Other | 5 | 7% |
Researcher | 5 | 7% |
Student > Doctoral Student | 4 | 6% |
Other | 18 | 27% |
Unknown | 14 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 16 | 24% |
Agricultural and Biological Sciences | 13 | 19% |
Medicine and Dentistry | 9 | 13% |
Social Sciences | 3 | 4% |
Nursing and Health Professions | 2 | 3% |
Other | 8 | 12% |
Unknown | 16 | 24% |