用于人类基因组多样性研究的Alu插入多态性
Alu insertion polymorphisms for the study of human genomic diversity.
作者信息
Roy-Engel A M, Carroll M L, Vogel E, Garber R K, Nguyen S V, Salem A H, Batzer M A, Deininger P L
机构信息
Tulane Cancer Center, Department of Environmental Health Sciences, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA.
出版信息
Genetics. 2001 Sep;159(1):279-90. doi: 10.1093/genetics/159.1.279.
Genomic database mining has been a very useful aid in the identification and retrieval of recently integrated Alu elements from the human genome. We analyzed Alu elements retrieved from the GenBank database and identified two new Alu subfamilies, Alu Yb9 and Alu Yc2, and further characterized Yc1 subfamily members. Some members of each of the three subfamilies have inserted in the human genome so recently that about a one-third of the analyzed elements are polymorphic for the presence/absence of the Alu repeat in diverse human populations. These newly identified Alu insertion polymorphisms will serve as identical-by-descent genetic markers for the study of human evolution and forensics. Three previously classified Alu Y elements linked with disease belong to the Yc1 subfamily, supporting the retroposition potential of this subfamily and demonstrating that the Alu Y subfamily currently has a very low amplification rate in the human genome.
基因组数据库挖掘在从人类基因组中识别和检索最近整合的Alu元件方面一直是非常有用的辅助手段。我们分析了从GenBank数据库中检索到的Alu元件，鉴定出两个新的Alu亚家族，即Alu Yb9和Alu Yc2，并进一步对Yc1亚家族成员进行了表征。这三个亚家族中的每个亚家族的一些成员都是最近才插入到人类基因组中的，以至于在不同人类群体中，约三分之一的分析元件在Alu重复序列的存在/缺失方面具有多态性。这些新鉴定出的Alu插入多态性将作为同源基因标记，用于人类进化研究和法医学。三个先前分类的与疾病相关的Alu Y元件属于Yc1亚家族，这支持了该亚家族的逆转录潜力，并表明Alu Y亚家族目前在人类基因组中的扩增率非常低。
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