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The Cypriot and Iranian National Mutation Frequency Databases

โœ Scribed by Marina Kleanthous; Philippos C. Patsalis; Anthi Drousiotou; Mehdi Motazacker; Kyproula Christodoulou; Marios Cariolou; Erol Baysal; Kimia Khrizi; Babak Moghimi; Farzin Pourfarzad; Sjozef van Baal; Constantinos Deltas; Hossein Najmabadi; George P. Patrinos

Book ID
102265922
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
203 KB
Volume
27
Category
Article
ISSN
1059-7794

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โœฆ Synopsis

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-touse 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.

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