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首页> 外文期刊>Human Biology >Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms
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Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms

机译：Y染色体，mtDNA和Alu多态性分析揭示了当代南蒂罗尔州孤立种群的遗传结构。

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摘要

Most of the inhabitants of South Tyrol in the eastern Italian Alps can be considered isolated populations because of their physical separation by mountain barriers and their sociocultural heritage. We analyzed the genetic structure of South Tyrolean populations using three types of genetic markers: Y-chromosome, mitochondrial DNA (mtDNA), and autosomal Alu markers. Using random samples taken from the populations of Val Venosta, Val Pusteria, Val Isarco, Val Badia, and Val Gardena, we calculated genetic diversity within and among the populations. Microsatellite diversity and unique event polymorphism diversity (on the Y chromosome) were substantially lower in the Ladin-speaking population of Val Badia compared to the neighboring German-speaking populations. In contrast, the genetic diversity of mtDNA haplotypes was lowest for the upper Val Venosta and Val Pusteria. These data suggest a low effective population size, or little admixture, for the gene pool of the Ladin-speaking population from Val Badia. Interestingly, this is more pronounced for Ladin males than for Ladin females. For the pattern of genetic Alu variation, both Ladin samples (Val Gardena and Val Badia) are among the samples with the lowest diversity. An admixture analysis of one German-speaking valley (Val Venosta) indicates a relatively high genetic contribution of Ladin origin. The reduced genetic diversity and a high genetic differentiation in the Rhaetoroman-and German-speaking South Tyrolean populations may constitute an important basis for future medical genetic research and gene mapping studies in South Tyrol. [PUBLICATION ABSTRACT]
机译：在意大利阿尔卑斯山东部，南蒂罗尔州的大多数居民由于山区障碍和社会文化遗产的实际隔离而被视为孤立的人口。我们使用三种类型的遗传标记分析了南蒂罗尔州人群的遗传结构：Y染色体，线粒体DNA（mtDNA）和常染色体Alu标记。使用从Val Venosta，Val Pusteria，Val Isarco，Val Badia和Val Gardena种群中抽取的随机样本，我们计算了种群内部和种群之间的遗传多样性。与附近的讲德语的人群相比，讲拉丁语的瓦尔巴迪亚人群的微卫星多样性和独特事件多态性多样性（在Y染色体上）要低得多。相比之下，上瓦尔维诺斯塔和瓦尔pusteria的mtDNA单倍型的遗传多样性最低。这些数据表明来自Val Badia的讲拉丁语的人口的基因库的有效人口规模很小，或几乎没有混合物。有趣的是，这对于拉丁男性比拉丁女性更为明显。对于遗传Alu变异的模式，两种拉丁样品（Val Gardena和Val Badia）均是多样性最低的样品。对一个说德语的山谷（Val Venosta）进行的混合分析表明，拉丹起源的遗传贡献相对较高。在说南极语和说德语的南蒂罗尔人中，减少的遗传多样性和高度的遗传分化可能构成今后在南蒂罗尔进行医学遗传研究和基因作图研究的重要基础。 [出版物摘要]

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  • 来源
    《Human Biology》 |2009年第6期|p.875-898|共24页
  • 作者

    Irene Pichler Jakob C Mueller Stefan A Stefanov Alessandro De Grandi Claudia Beu Volpato Gerd K Pinggera Agnes Mayr Martin Ogriseg Franz Ploner Thomas Meitinger Peter P Pramstaller;

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    IRENE PICHLER,1 JAKOB C. MUELLER,2,3 STEFAN A. STEFANOV,4 ALESSANDRO DE GRANDI,' CLAUDIA BEU VOLPATO,1 GERD K. PINGGERA,1 AGNES MAYR,5 MARTIN OGRISEG,6 FRANZ PLONER,7 THOMAS MEITINGER,3,8 AND PETER P. PRAMSTALLER191Institute of Genetic Medicine, European Academy of Bolzano, Viale Druso 1, 39100 Bolzano-Bozen, Italy.2Institute for Medical Statistics and Epidemiology, and Institute for Psychiatry and Psychotherapy, Technical University Munich, Munich, Germany, and Hertie Institute for Clinical Brain Research, Tübingen, Germany.3hstitute of Human Genetics, GSF-National Research Institute for Environment and Health, Neuheiberg, Germany.4Laboratory of Genomic Diversity, National Cancer Institute, Frederick, Maryland.5Department of Laboratory Medicine, Hospital of Brunico, Brunico-Bruneck, Italy.6Department of Laboratory Medicine, Hospital of Bressanone, Bressanone-Brixen, Italy.7Department of Laboratory Medicine, Hospital of Vipiteno, Vipiteno-Sterzing, Italy.8Institute of Human Genetics. Technical University Munich. Munich. Germany.9Department of Neurology, Central Hospital of Bolzano, Bolzano-Bozen, Italy, and Department of Neurology, University of Lübeck, Lübeck, Germany.The first three authors contributed equally to this work.,;

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