导读：一个国际研究小组日前完成了对著名的“冰人”奥齐的基因组测序，揭示了这名在阿尔卑斯山被冰封五千多年的古人的诸多特征，比如他是棕褐色眼睛和O型血。
“冰人”奥齐是登山者于1991年在意大利和奥地利两国交界处的阿尔卑斯山地区发现的一具被冰封的木乃伊，研究显示它已有5300多年的历史。自发现以后，研究人员对奥齐进行了多方面的分析，并在2008年完成了对其线粒体遗传物质的测序。
意大利和德国等国研究人员在新一期英国《自然·通信》杂志刊登报告说，他们完成了对“冰人”奥齐整个基因组的测序。分析显示，奥齐是棕褐色眼睛、O型血，还具有乳糖不耐受的特征，也就是不适宜喝牛奶，他还可能具有较高的冠心病风险。此外，研究人员还发现他有感染能引起莱姆关节炎的细菌的迹象，因此他很可能是已知最早的患有莱姆关节炎的病例。
研究人员还将“冰人”奥齐的基因组与现代人进行比对，结果显示他与今天生活在意大利撒丁岛和法国科西嘉岛上的居民亲缘关系最近。研究人员认为，“冰人”奥齐虽然发现在欧洲大陆，但他所属的族群可能在大陆上已经灭亡或与其他族群融合，不过在这两个岛屿上却得以传承下来。
New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing
Andreas Keller, Angela Graefen, Markus Ball, Mark Matzas, Valesca Boisguerin, Frank Maixner, Petra Leidinger, Christina Backes, Rabab Khairat, Michael Forster, Björn Stade, Andre Franke, Jens Mayer, Jessica Spangler, Stephen McLaughlin, Minita Shah, Clarence Lee, Timothy T. Harkins, Alexander Sartori, Andres Moreno-Estrada
The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.
文献链接：https://www.nature.com/ncomms/journal/v3/n2/full/ncomms1701.html
