Sinnett D, Deragon J M, Simard L R, Labuda D
Génétique Médicale, Centre de Recherche Hôpital Ste-Justine, Université de Montréal, Quebec, Canada.
Genomics. 1990 Jul;7(3):331-4. doi: 10.1016/0888-7543(90)90166-r.
The simultaneous analysis of multiple loci could substantially increase the efficiency of mapping studies. Toward this goal, we used the polymerase chain reaction to amplify multiple DNA fragments originating from dispersed genomic segments that are flanked by Alu repeats. Analysis of different human DNA samples revealed numerous amplification products distinguishable by size, some of which vary between individuals. A family study demonstrated that these polymorphic fragments are inherited in a Mendelian fashion. Because of the ubiquitous distribution of Alu repeats, these markers, called "alumorphs," could be useful for linkage mapping of the human genome. A major advantage of alumorphs is that no prior knowledge of DNA sequence of marker loci is required. This approach may find general application for any genome where interspersed repetitive sequences are found.
对多个基因座的同时分析可显著提高定位研究的效率。为实现这一目标,我们使用聚合酶链反应来扩增多个源自基因组分散片段的DNA片段,这些片段两侧为Alu重复序列。对不同人类DNA样本的分析揭示了许多可按大小区分的扩增产物,其中一些在个体之间存在差异。一项家系研究表明,这些多态性片段以孟德尔方式遗传。由于Alu重复序列分布广泛,这些被称为“铝变体”的标记物可能有助于人类基因组的连锁定位。铝变体的一个主要优点是不需要标记基因座的DNA序列的先验知识。这种方法可能会在发现散布重复序列的任何基因组中得到广泛应用。