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The Cypriot and Iranian National Mutation Frequency Databases
Author(s) -
Kleanthous Marina,
Patsalis Philippos C.,
Drousiotou Anthi,
Motazacker Mehdi,
Christodoulou Kyproula,
Cariolou Marios,
Baysal Erol,
Khrizi Kimia,
Moghimi Babak,
Pourfarzad Farzin,
van Baal Sjozef,
Deltas Constantinos,
Najmabadi Hossein,
Patrinos George P.
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9422
Subject(s) - omim : online mendelian inheritance in man , database , mendelian inheritance , biology , population , locus (genetics) , ethnic group , mutation , genetics , computer science , gene , political science , environmental health , medicine , law , phenotype
The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-to-use query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.