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

机译:地中海方正突变数据库(MFMD):在地中海人口的遗传学诊断,遗传多样性和迁徙历史中利用方正突变

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摘要

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 .
机译:地中海盆地一直是移民十字路口的剧院,随后在史前和历史时期解决了几种社会和文化,对遗传和基因组确定性产生了重要影响。在这里,我们介绍了地中海奠基人突变数据库(MFMD),该数据库的建立是为了提供基于网络的访问方式,以访问地中海人口中的奠基人突变信息。突变数据是从文献和其他在线资源中收集的,并经过系统地审查并整合到该数据库中。为每个创建者突变提供的信息包括DNA变化,氨基酸变化,突变类型和突变作用,以及可用时的突变频率和合并时间。当前,该数据库包含在与219种疾病相关的210个基因中发现的383个创始人突变。我们相信,MFMD将帮助科学家和医师设计更快,更便宜的基因诊断测试。此外,创始人突变的合并时间给出了有关地中海人口迁移历史的概述。 MFMD可以从公开访问。

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