Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, EpiSciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

Genetic diseases in the Tunisian population.

Lilia Romdhane 1 Sonia Abdelhak 1, * 
* Corresponding author
Abstract : Tunisia is one of the North African countries, geographically situated in a central position at the crossroad between Africa and Europe. The demographic features of the Tunisian population include among others high rates of consanguinity. We report, here on the spectrum of genetic diseases in Tunisia. The review of the literature, including other available information (gray literature) showed that there are at least 346 genetic disorders for which cases have been identified in the Tunisian population. Among these, 62.9% are autosomal recessive, 23% autosomal dominant, 5.4% X-linked, and the remaining are of Y-linked, mitochondrial, and unknown mode of transmission. Fifty percent of the reported conditions in this study are caused by at least one mutation. For autosomal recessive diseases, most of the mutations were identified at homozygous state among the affected individuals. Part of the mutations was the result of a founder effect; these are the consequences of the high rate of consanguinity. The congenital malformations, diseases of the nervous system and metabolic disorders are the major groups of genetic diseases affecting the Tunisian population. The large spectrum of diseases and their relatively high frequency could be explained by the high degree of inbreeding and the presence of multiple mutations, either allelic or in different genes. This is due to the richness of the genetic background of the studied population. A multidisciplinary approach is essential to develop adequate preventive programmes adapted to the social, cultural, and economic context.
Document type :
Journal articles
Complete list of metadata
Contributor : Hadhri Najet Connect in order to contact the contributor
Submitted on : Thursday, July 7, 2011 - 11:16:42 AM
Last modification on : Monday, October 8, 2018 - 5:44:08 PM

Links full text




Lilia Romdhane, Sonia Abdelhak. Genetic diseases in the Tunisian population.. American Journal of Medical Genetics Part A, Wiley, 2011, 155A (1), pp.238-67. ⟨10.1002/ajmg.a.33771⟩. ⟨pasteur-00606827⟩



Record views