Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom.
PLoS One. 2011;6(8):e23087. doi: 10.1371/journal.pone.0023087. Epub 2011 Aug 4.
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source. Here, we investigate copy number variants from genome wide scans of single nucleotide polymorphisms in three European population isolates, the island of Vis in Croatia, the islands of Orkney in Scotland and the South Tyrol in Italy. We show that whereas the overall copy number variant frequencies are similar between populations, their distribution is highly specific to the population of origin, a finding which is supported by evidence for increased kinship correlation for specific copy number variants within populations.
基因组分析为测试地理区域和当地人群内和之间的遗传变异提供了一种有力的方法。包含基因组序列插入、缺失和重复的拷贝数变异是这样一种方便且信息丰富的来源。在这里，我们研究了来自三个欧洲人群隔离种群（克罗地亚的维斯岛、苏格兰的奥克尼群岛和意大利的南蒂罗尔）的单核苷酸多态性全基因组扫描中的拷贝数变异。我们表明，尽管不同人群之间的总体拷贝数变异频率相似，但它们的分布在很大程度上是特定于种群起源的，这一发现得到了特定拷贝数变异在种群内的亲缘关系相关性增加的证据的支持。
