PDF(Pubmed)
Abstract：
Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials. We perform comparative osteological examinations of the skeletal remains and find overlapping skeletal markers, many of which are consistent with these syndromes. Interestingly, three cases of trisomy 21, and the case of trisomy 18 were detected in two contemporaneous sites in early Iron Age Spain (800-400 BCE), potentially suggesting a higher frequency of burials of trisomy carriers in those societies. Notably, the care with which the burials were conducted, and the items found with these individuals indicate that ancient societies likely acknowledged these individuals with trisomy 18 and 21 as members of their communities, from the perspective of burial practice.
摘要：
非整倍体,特别是,三体代表当今人类遗传学中观察到的最常见的遗传畸变。为了探索历史和史前人群中三体的存在，我们筛选了近10,000个古代人类个体，以寻找任何目标常染色体的三个副本。我们发现了明确的遗传证据，6例21三体（唐氏综合征）和1例18三体（爱德华兹综合征），所有病例都存在于婴儿或围产期埋葬中。我们对骨骼残骸进行比较骨学检查，发现重叠的骨骼标记，其中许多与这些综合症是一致的。有趣的是,在西班牙铁器时代早期（公元前800-400年）的两个同期地点发现了3例21三体和18三体，这可能表明在这些社会中埋葬三体携带者的频率更高。值得注意的是,埋葬的小心，与这些人一起发现的物品表明，古代社会可能承认这些18和21三体的人是他们社区的成员，从埋葬实践的角度来看。
