Literature DB >> 26173767

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

Hicham Charoute1,2, Amina Bakhchane1, Houda Benrahma1, Lilia Romdhane3, Khalid Gabi1, Hassan Rouba1, Malika Fakiri2, Sonia Abdelhak3, Guy Lenaers4, Abdelhamid Barakat1.   

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.
© 2015 WILEY PERIODICALS, INC.

Keywords:  Database; Founder Mutation; Mediterranean population; human genetics; mutation screening

Mesh:

Year:  2015        PMID: 26173767     DOI: 10.1002/humu.22835

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  2 in total

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Journal:  Mol Genet Genomic Med       Date:  2016-11-10       Impact factor: 2.183

2.  Genetics and genomic medicine in Tunisia.

Authors:  Houda Elloumi-Zghal; Habiba Chaabouni Bouhamed
Journal:  Mol Genet Genomic Med       Date:  2018-03       Impact factor: 2.183

  2 in total

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