Nuffield Department of Surgical Sciences, John Radcliffe Hospital, University of Oxford, Room 6607 Level 6, Headley Way, Oxford, OX3 9DU, UK,
Mamm Genome. 2013 Dec;24(11-12):439-45. doi: 10.1007/s00335-013-9475-x. Epub 2013 Sep 26.
Chronic otitis media (OM) is common in Down syndrome (DS), but underlying aetiology is unclear. We analysed the entire available mouse resource of partial trisomy models of DS looking for histological evidence of chronic middle-ear inflammation. We found a highly penetrant OM in the Dp(16)1Yey mouse, which carries a complete trisomy of MMU16. No OM was found in the Dp(17)1Yey mouse or the Dp(10)1Yey mouse, suggesting disease loci are located only on MMU16. The Ts1Cje, Ts1RhR, Ts2Yah, and Ts65Dn trisomies and the transchomosomic Tc1 mouse did not develop OM. On the basis of these findings, we propose a two-locus model for chronic middle-ear inflammation in DS, based upon epistasis of the regions of HSA21 not in trisomy in the Tc1 mouse. We also conclude that environmental factors likely play an important role in disease onset.
慢性中耳炎（OM）在唐氏综合征（DS）中很常见，但潜在病因尚不清楚。我们分析了 DS 的部分三体模型的所有可用小鼠资源，寻找慢性中耳炎症的组织学证据。我们在 Dp(16)1Yey 小鼠中发现了一种高穿透性的 OM，该小鼠携带 MMU16 的完全三体。在 Dp(17)1Yey 小鼠或 Dp(10)1Yey 小鼠中未发现 OM，表明疾病基因座仅位于 MMU16 上。Ts1Cje、Ts1RhR、Ts2Yah 和 Ts65Dn 三体以及 transchomosomic Tc1 小鼠未发生 OM。基于这些发现，我们提出了 DS 慢性中耳炎症的两个基因座模型，基于 HSA21 区域的上位性，在 Tc1 小鼠中未发生三体。我们还得出结论，环境因素可能在疾病发病中起重要作用。
