Robledo Renato, Orru Sandro, Sidoti Antonella, Muresu Rosella, Esposito Diane, Grimaldi Marie Claude, Carcassi Carlo, Rinaldi Antoniettina, Bernini Luigi, Contu Licinio, Romani Massimo, Roe Bruce, Siniscalco Marcello
Laboratory of Biology and Genetics, University of Messina, Messina, 98100, Italy.
Genomics. 2002 Dec;80(6):585-92. doi: 10.1006/geno.2002.7014.
We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IglambdaV genes at about 450 kb from the cluster of the IglambdaJ-C genes. These findings are not meant to be just another report of a polymorphic marker suitable for population studies. Rather, we wish to stress that a large number of inborn mute gaps may be spread all over the genome and that the many RDA-detected microdeletions already available are efficient tools for the discovery of this otherwise hidden category of genetic variation. Apart from their possible impact on expression of structural genes, mute gaps must be filled for the reference map of our genome to be truly completed.
我们展示了人类基因组参考图谱中一个9.1kb的沉默缺口，通过RDA研究揭示其为稳定型的全球缺失/插入多态性。所呈现的分子和群体数据表明其起源于染色体区域22q11.2中的一个独特的祖先转座事件，该区域在距IglambdaJ-C基因簇约450kb处与IglambdaV基因重叠。这些发现并非仅仅是适合群体研究的多态性标记的又一份报告。相反，我们希望强调，大量先天性沉默缺口可能遍布整个基因组，并且许多已有的RDA检测到的微缺失是发现这类原本隐藏的遗传变异的有效工具。除了它们可能对结构基因表达产生的影响外，为了真正完成我们基因组的参考图谱，沉默缺口必须被填补。
