Thomas E, Herrera R J
Department of Biological Sciences, Florida International University, Miami 33199, USA.
Electrophoresis. 1998 Oct;19(14):2373-9. doi: 10.1002/elps.1150191402.
Alu sequences are present in humans in excess of 500,000 copies per haploid genome and represent the largest family of short interspersed repetitive elements (SINEs). These mobile genetic elements are ancestrally derived from the 7SL RNA gene and move throughout the genomes of primates by retroposition. Polymorphic Alu insertions have proven to be useful for population studies, paternity determinations and forensic applications. Additionally, a simple polymerase chain reaction (PCR)-based assay has been established to examine these polymorphisms. In the present study, we have applied the technique of multiplex polymerase chain reaction to the Alu polymorphic system. Duplex and triplex PCR reactions were performed for the analysis of five different Alu polymorphic loci in different combinations. This study represents a starting point for further experimentation to improve and eventually optimize Alu multiplex PCR.
在人类单倍体基因组中，Alu序列的拷贝数超过50万，是短散在重复元件（SINEs）中最大的家族。这些可移动遗传元件起源于7SL RNA基因，通过逆转座作用在灵长类动物基因组中移动。事实证明，多态性Alu插入对于群体研究、亲子鉴定和法医应用很有用。此外，已经建立了一种基于简单聚合酶链反应（PCR）的检测方法来检测这些多态性。在本研究中，我们将多重聚合酶链反应技术应用于Alu多态性系统。进行了双重和三重PCR反应，以分析五种不同Alu多态性位点的不同组合。本研究是进一步实验以改进并最终优化Alu多重PCR的起点。
