HUMAN-SPECIFIC ALU-SEQUENCE TAGGED SITES

我们已经开发出一种方法来分离500-1000个Alu家族成员 是最近才被植入人类体内的 这些 插入在人类基因组中是相当随机的， 可能偏向于含有基因的区域。 40%的基因座 最近插入的是在人类群体中的二态性，其中20% 这些都具有高度的二型性。 侧翼PCR探针 这些基因座的序列检测到两种基因的条带的显著差异， 100 bp或400 bp，这取决于Alu是否插入了 个体的染色体或不。 任何单独的Alu插入都是唯一的 因此，群体研究可以跟踪任何个体Alu 从插入点插入。 我们发现高度二态的Alu 家庭成员都对人口有很高的了解。 在 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，以类似于 CA重复。 我们打算从大约500个基因座产生STS， 他们的人口二态性，3'端多态性，和初步 染色体作图 因此，从这些产生人特异性Alu STS， （HASTS），有可能同时促进 人类基因组计划的目标，同时也开发独特的资源， 用于分子生物学和人口研究。 一方面通过 为大多数或所有人类开发新的经过良好测试的STS 染色体，该项目将提供一个模型，如何一个小实验室 对基因组功能的某个特定方面感兴趣的人 to global全球physical物理mapping映射of the human人类genome基因组. 另一方面 即将开发的STS将立即用于研究 人类的分子生物学和人口结构。 这些 试剂将对研究历史的研究人员有很大的帮助 和目前的铝合金转位方式。 他们会 对人类进化的研究也至关重要， 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.