Goios A, Nogueira C, Pereira C, Vilarinho L, Amorim A, Pereira L
Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal.
J Inherit Metab Dis. 2005;28(5):769-78. doi: 10.1007/s10545-005-0023-z.
As for any non-recombining genome, any mutation at mtDNA, if not recurrent, appears on a particular haplotype background, allowing its detection by haplogroup association studies. It has been shown that the propensity for occurrence of single macrodeletions at a level beyond the pathological threshold is associated with super-haplogroup U/K. However, in this report, we present evidence for the absence of preferential haplogroup backgrounds for single macrodeletions. We have analysed how haplogroup diagnostic polymorphisms could disrupt direct repeats usually flanking the deleted segment, and we have concluded that for the Common Deletion, no such polymorphisms are observed in humans, but they do occur in other primates. Furthermore, we also report five new single macrodeletions.
对于任何非重组基因组而言，线粒体DNA（mtDNA）上的任何突变（若不是反复出现的）会出现在特定的单倍型背景上，从而可通过单倍群关联研究对其进行检测。研究表明，单一大片段缺失发生在超过病理阈值水平的倾向与超级单倍群U/K相关。然而，在本报告中，我们提供证据表明不存在单一大片段缺失的优先单倍群背景。我们分析了单倍群诊断多态性如何破坏通常位于缺失片段侧翼的直接重复序列，并且得出结论，对于常见缺失而言，在人类中未观察到此类多态性，但在其他灵长类动物中确实存在。此外，我们还报告了五个新的单一大片段缺失。
