HUMAN-SPECIFIC ALU SEQUENCE-TAGGED SITES

我们已经开发出一种方法来分离500-1000名Alu家庭成员 最新植入人类种群的基因。这些 插入片段在人类基因组中相当随机地排列，具有一个 可能偏向于包含基因的区域。这些基因座中有40%是这样的 最近在人类群体中插入为二型，有20% 其中有很高水平的二形性。侧翼的聚合酶链式反应 这些基因座的序列检测到两个基因座的条带有显著差异 100个碱基或400个碱基，取决于ALU是否已插入 个体的染色体。任何单独的Alu插入都是唯一的 事件，因此人口研究可以跟踪任何个体ALU 从插入点插入。我们发现了高度二晶性的Alu 家庭成员都对人类人口有很高的信息量。在……里面 此外，大约20%的ALU插入具有长的、简单的 序列尾部往往是非常二态的，其方式类似于 CA重复。我们打算从大约500个位点产生STSS并进行测试 群体二态、3‘端多态和初步 染色体图谱。因此，从这些基因中产生人类特有的Alu STSS (HASTS)，有可能同时推动方案 人类基因组计划的目标，同时也开发独特的资源 用于分子生物学和种群研究。一方面，通过 为大多数或全部人类开发新的经过充分测试的STSS 染色体，该项目将为一个小型实验室提供一个模型 对基因组功能的特定方面感兴趣的人可以 人类基因组的全球物理图谱。另一方面， 将要开发的STSS将立即用于研究这两个 人类的分子生物学和种群结构。这些 试剂将对研究历史的研究人员有很大的帮助 Alu家族的特点和目前的Alu后置模式。他们会 也对研究人类进化和 种群多样性。

We have developed an approach to isolate the 500-1000 Alu family members that are most recently inserted in the human population. These insertions are fairly randomly arranged in the human genome, with a probable bias towards gene-containing regions. 40% of these loci are so recently inserted as to be dimorphic in the human population, with 20% of these having a high level of dimorphism. PCR probes from flanking sequences of these loci detect a striking difference in bands of either 100 bp or 400 bp, depending on whether the Alu has inserted in that individual's chromosome or not. Any individual Alu insertion is a unique event, therefore population studies can track any individual Alu insertion from that point of insertion. We find the highly dimorphic Alu family members all to be highly informative about human populations. In addition, about 20% of all of the Alu insertions have a long, simple sequence tail which tends to be very dimorphic, in a manner similar to the CA repeats. We intend to produce STSs from about 500 loci and test them for population dimorphisms, 3' end polymorphism, and preliminary chromosome mapping. Thus, producing Human-Specific Alu STSs from these (HASTS), has the potential of simultaneously promoting the programmatic goals of the Human Genome Project while also developing unique resources for molecular biological and population studies. On the one hand, by developing new sets of well tested STSs for most, or all, of the human chromosomes, the project would provide a model for how a small laboratory with an interest in a particular aspect of genome function can contribute to global physical mapping of the human genome. On the other hand, the STSs that are to be developed would be of immediate use in studying both the molecular biology and the population structure of the human. These reagents would be of major assistance to researchers studying the history of the Alu family and the current mode of Alu retroposition. They would also be of critical importance for studies of human evolution and population diversity.