title: Specific aspects of consanguinity: some examples from the Tunisian population.
abstract: Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded by different ethnic groups. These historical events, and consanguinity, have impacted on the spectrum and frequency of genetic diseases in Tunisia. Investigations of Tunisian families have significantly contributed to elucidation of the genetic bases of rare disorders, providing an invaluable resource of cases due to particular familial structures (large family size, consanguinity and share of common ancestors). In the present study, we report on and review different aspects of consanguinity in the Tunisian population as a case study, representing several features common to neighboring or historically related countries in North Africa and the Middle East. Despite the educational, demographic and behavioral changes that have taken place during the last four decades, familial and geographical endogamy still exist at high frequencies, especially in rural areas. The health implications of consanguinity in Tunisian families include an increased risk of the expression of autosomal recessive diseases and particular phenotypic expressions. With new sequencing technologies, the investigation of consanguineous populations provides a unique opportunity to better evaluate the impact of consanguinity on the genome dynamic and on health, in addition to a better understanding of the genetic bases of diseases.
authors: Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia.
authors: Lilia
authors: L
authors: Romdhane
authors: Nizar
authors: N
authors: Ben Halim
authors: Insaf
authors: I
authors: Rejeb
authors: Rym
authors: R
authors: Kefi
authors: Yosra
authors: Y
authors: Bouyacoub
authors: Mariem
authors: M
authors: Ben Rekaya
authors: Habib
authors: H
authors: Messai
authors: Olfa
authors: O
authors: Messaoud
authors: Zied
authors: Z
authors: Riahi
authors: Crystel
authors: C
authors: Bonnet
authors: Faten
authors: F
authors: Ben Rhouma
authors: Majdi
authors: M
authors: Nagara
authors: Christine
authors: C
authors: Petit
authors: Ken
authors: K
authors: McElreavey
authors: Giovanni
authors: G
authors: Romeo
authors: Sonia
authors: S
authors: Abdelhak
mesh_terms: D003241:Consanguinity; D018703:Founder Effect; D030342:Genetic Diseases, Inborn / Q000453:epidemiology* / Q000235:genetics; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008393:Marriage / Q000706:statistics & numerical data*; D014416:Tunisia / Q000453:epidemiology