title: The Tunisian population history through the Crigler-Najjar type I syndrome.
abstract: Crigler-Najjar syndrome type I (CN-I) is a rare and severe metabolic disorder. A recurrent mutation - c.1070A>G in exon 3 - was identified in the Tunisian population, suggesting a founder effect. In 2004, the detection of this mutation in two Kuwaiti Bedouin families has called the Tunisian founder effect in question again. To determine the origin of this mutation, 21 Tunisian and 2 Kuwaiti Bedouin CN-I patients were screened using nine genetic markers. Haplotype analysis confirmed the founder effect hypothesis and dated the appearance of this mutation some 32 generations ago in the Tunisian population. Using the same genetic analysis, the ancestor haplotype was identified in these two families. This result genetically confirms the blending of the Bedouin nomads within today's Tunisian population. After population migration from east to west, this mutation was introduced into the Tunisian population, and then perpetuated, probably because of marriages in isolated communities.
authors.affiliation: Department of Biochemistry, Antoine Béclère Hospital, Université Paris Sud, UFR Kremlin Bicêtre, Clamart Cedex, France. francois.petit@abc.aphp.fr
authors.forename: François M
authors.initials: FM
authors.lastname: Petit
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bézieau
authors.forename: Vincent
authors.initials: V
authors.lastname: Gajdos
authors.forename: Frédéric
authors.initials: F
authors.lastname: Parisot
authors.forename: Catherine
authors.initials: C
authors.lastname: Scoul
authors.forename: Liliane
authors.initials: L
authors.lastname: Capel
authors.forename: Volodia
authors.initials: V
authors.lastname: Stozinic
authors.forename: Naïma
authors.initials: N
authors.lastname: Khrouf
authors.forename: Ridha
authors.initials: R
authors.lastname: M'Rad
authors.forename: Abraham
authors.initials: A
authors.lastname: Koshy
authors.forename: Alix
authors.initials: A
authors.lastname: Mollet-Boudjemline
authors.forename: Jeanne
authors.initials: J
authors.lastname: Francoual
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
mesh_terms: D016022:Case-Control Studies; D003414:Crigler-Najjar Syndrome / Q000201:enzymology / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D009154:Mutation / Q000235:genetics; D020161:Physical Chromosome Mapping; D014416:Tunisia; D000099148:UGT1A1 Enzyme
chemical_list: D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme