Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

Hassan Charoute 1, 2 Amina Bakhchane 1 Houda Benrahma 1 Lilia Romdhane 3 Khalid Gabi 1 Hassan Rouba 1 Malika Fakiri 2 Sonia Abdelhak 3 Guy Lenaers 4 Abdelhamid Barakat 1, *
* Auteur correspondant
1 Institut Pasteur du Maroc
2 Faculté des Sciences Techniques de Settat, Laboratoire agroalimentaire et santé
3 LR11IPT05 - Laboratoire de Génomique Biomédicale et Oncogénétique
4 PREMMi - Pôle de Recherche et d’Enseignement en Médecine Mitochondriale
Abstract : The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and historical times, with important consequences on genetic and genomic determinisms. Here, we present the Mediterranean Founder Mutation Database (MFMD), established to offer web-based access to founder mutation information in the Mediterranean population. Mutation data were collected from the literature and other online resources and systematically reviewed and assembled into this database. The information provided for each founder mutation includes DNA change, amino-acid change, mutation type and mutation effect, as well as mutation frequency and coalescence time when available. Currently, the database contains 383 founder mutations found in 210 genes related to 219 diseases. We believe that MFMD will help scientists and physicians to design more rapid and less expensive genetic diagnostic tests. Moreover, the coalescence time of founder mutations gives an overview about the migration history of the Mediterranean population. MFMD can be publicly accessed from http://mfmd.pasteur.ma.
Keywords : mutation screening Database Founder Mutation Mediterranean population human genetics
Type de document :
Article dans une revue
Human Mutation, Wiley, 2015, 36 (11), pp.E2441-53. 〈10.1002/humu.22835〉
Liste complète des métadonnées
https://hal-riip.archives-ouvertes.fr/pasteur-01375020
Contributeur : Institut Pasteur Tunis <>
Soumis le : dimanche 2 octobre 2016 - 20:01:47
Dernière modification le : lundi 5 février 2018 - 15:22:13

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Hassan Charoute, Amina Bakhchane, Houda Benrahma, Lilia Romdhane, Khalid Gabi, et al.. Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.. Human Mutation, Wiley, 2015, 36 (11), pp.E2441-53. 〈10.1002/humu.22835〉. 〈pasteur-01375020〉

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