Pereira Luísa, Gonçalves João, Goios Ana, Rocha Tiago, Amorim António
IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), Porto, Portugal.
Int J Androl. 2005 Aug;28(4):241-7. doi: 10.1111/j.1365-2605.2005.00539.x.
A mitochondrial DNA (mtDNA) haplogroup association study carried out in 101 southern Portuguese males with oligozoospermia showed to be negative when comparing with a geographically matching control sample. Misleading positive association signs were however obtained when using other control samples from the same country. This shows that mtDNA population substructure can also introduce spurious signs in haplogroup association studies, as previously reported for Y-chromosome. However, our data do not exclude the probability that a particular mtDNA mutation contributes significantly to the reduction of sperm production, but indeed precludes the hypothesis of a significant association between such a mutation and specific haplogroup.
一项针对101名患有少精子症的葡萄牙南部男性进行的线粒体DNA（mtDNA）单倍群关联研究显示，与地理匹配的对照样本相比，结果呈阴性。然而，当使用来自同一国家的其他对照样本时，却得到了误导性的阳性关联迹象。这表明，线粒体DNA群体亚结构也可能在单倍群关联研究中引入虚假迹象，正如之前关于Y染色体的报道。然而，我们的数据并不排除特定的线粒体DNA突变对精子生成减少有显著影响的可能性，但确实排除了这种突变与特定单倍群之间存在显著关联的假设。
