History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation - RIIP - Réseau International des Instituts Pasteur Accéder directement au contenu
Article Dans Une Revue Mitochondrial DNA Année : 2016

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

Résumé

Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients from rural area surrounding the region of Mahdia in Central Tunisia. This constitutes the largest pool of patients with this mutation ever described. This study was performed to trace the history of the patients' ancestries in a single region. After extraction of genomic DNA, exon 31 of AGL gene was sequenced. The patients were investigated for the hypervariable segment 1 of mitochondrial DNA and 17 Y-STR markers. We found that the p.W1327X mutation was a founder mutation in Tunisia Analysis of maternal lineages shows an admixture of autochthonous North African, sub-Saharan and a predominance of Eurasian haplogroups. Heterogeneity of maternal haplogroups indicates an ancient settlement. However, paternal gene flow was highly homogeneous and originates from the Near East. We hypothesize that the p.W1327X mutation was introduced into the Tunisian population probably by a recent migration event; then the mutation was fixed in a small region due to the high rate of consanguineous marriages and genetic drift. The screening for this mutation should be performed in priority for GSD III molecular diagnosis, for patients from the region of Mahdia and those from regions sharing the same settlement history.
Fichier non déposé

Dates et versions

pasteur-01374986 , version 1 (28-12-2016)

Identifiants

Citer

Faten Ben Rhouma, Habib Messai, Sana Hsouna, Nizar Ben Halim, Wafa Cherif, et al.. History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation. Mitochondrial DNA, 2016, 27 (5), pp.3194-3198. ⟨10.3109/19401736.2015.1007331⟩. ⟨pasteur-01374986⟩

Collections

RIIP RIIP_TUNIS
80 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More