Your browser doesn't support javascript.
loading
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute, Hicham; Bakhchane, Amina; Benrahma, Houda; Romdhane, Lilia; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Abdelhak, Sonia; Lenaers, Guy; Barakat, Abdelhamid.
Afiliação
  • Charoute H; Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
  • Bakhchane A; Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat, Morocco.
  • Benrahma H; Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
  • Romdhane L; Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
  • Gabi K; Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.
  • Rouba H; Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
  • Fakiri M; Laboratoire de Génétique Moléculaire Humaine, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
  • Abdelhak S; Laboratory of Agri-food and Health, Faculty of Sciences and Techniques, Hassan 1st University, BP 577, 26000, Settat, Morocco.
  • Lenaers G; Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, 1002, Tunis, Tunisia.
  • Barakat A; Pôle de Recherche et d'Enseignement en Médecine Mitochondriale (PREMMi), Université d'Angers, CHU Bât IRIS/IBS, Rue des Capucins, 49933, Angers cedex 9, France.
Hum Mutat ; 36(11): E2441-53, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26173767
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.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Efeito Fundador / Bases de Dados Genéticas / Emigração e Imigração / Genética Populacional / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Efeito Fundador / Bases de Dados Genéticas / Emigração e Imigração / Genética Populacional / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article