Skolnick M H, Wallace R B
Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132.
Genomics. 1988 May;2(4):273-9. doi: 10.1016/0888-7543(88)90014-6.
In this paper we present a systematic approach to gene mapping and genotyping based on the simultaneous analysis of multiple amplified sequence polymorphisms (ASPs). These genetic markers measure variation in DNA sequences which have been amplified by a polymerase and/or a ligase. The amplified sequence lengths are determined by appropriate choice of oligonucleotides used in the amplification reaction. We describe three classes of ASPs: restriction site polymorphisms, sequence length polymorphisms, and DNA base pair changes not associated with restriction sites. Simultaneous analysis of multiple ASPs using a modified automated DNA sequencing apparatus should be possible because amplification with oligonucleotides provides control over the fragment lengths generated. Development of an automated ASP technology is therefore the next logical step for efficient gene mapping and genotyping of individuals. With this technology, one gel would be sufficient to indicate the most probable locations of a gene and a second gel would permit the selection of the correct location while simultaneously providing a fine structure map.
在本文中，我们提出了一种基于对多个扩增序列多态性（ASP）进行同步分析的基因定位和基因分型系统方法。这些遗传标记用于测量经聚合酶和/或连接酶扩增后的DNA序列变异。扩增序列的长度由扩增反应中使用的寡核苷酸的适当选择来确定。我们描述了三类ASP：限制性酶切位点多态性、序列长度多态性以及与限制性酶切位点无关的DNA碱基对变化。使用改良的自动化DNA测序仪对多个ASP进行同步分析应该是可行的，因为用寡核苷酸进行扩增能够控制所产生片段的长度。因此，开发自动化ASP技术是对个体进行高效基因定位和基因分型的下一个合理步骤。利用这项技术，一块凝胶足以指示基因最可能的位置，而第二块凝胶则能在提供精细结构图的同时，允许选择正确的位置。
