Laboratorio di Antropologia Molecolare Forense, Dipartimento di Biologia, Università degli Studi di Firenze, Via del Proconsolo 12, 50122 Florence, Italy.
LABANOF, Laboratorio di Antropologia e Odontologia Forense, Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Via L. Mangiagalli 37, 20133 Milan, Italy.
Genes (Basel). 2023 Mar 13;14(3):706. doi: 10.3390/genes14030706.
The skeletal sex and ancestry of unidentified human crania can be inferred both from physical and from molecular features. This paper depicts and discusses the experiences of physical and molecular anthropologists on a set of commingled crania from the largest Mediterranean shipwreck disaster on 18 April 2015, in order to facilitate identification of human crania. Twenty-one disarticulated crania that were recovered from the above-mentioned shipwreck were analyzed to estimate skeletal sex and ancestry, following a physical and a molecular pipeline. The physical analyses applied morphological and metric methods that provided posterior probabilities for the crania to be classified into a sex or ancestral group. The molecular analyses were performed on petrous bones via a shotgun sequencing approach that allowed us to determine the sex of each individual and to retrieve the complete mitochondrial genome, Y chromosome single nucleotide polymorphisms, up to 597573 SNPs across the human genome from each individual. The morphometric sex analyses showed that most crania belonged to male individuals, although some estimations remained uncertain or undetermined. Inconsistent results were obtained for ancestry estimation as well, since morphological methods classified the crania mostly as European/White, in contrast to the most numerous African forms determined by craniometric analyses. This quite agreed with molecular analyses that identified only African males. Overall, undetermined and contrasting results were obtained between disciplines, preventing the creation of reliable and sound biological profiles that could provide guidance on the sex and ancestral group of the victims. Therefore, the times may not be mature for a merger of physical and molecular anthropology. However, future investigations of this research avenue would pave the way to the possible development of novel tools, methods, and wider reference databases that could address the limitations of both disciplines.
骨骼性别和祖先可以通过物理和分子特征来推断。本文描述并讨论了物理和分子人类学家在 2015 年 4 月 18 日最大的地中海沉船灾难中混合颅骨的经验,以促进人类颅骨的识别。对从上述沉船中回收的 21 个脱节颅骨进行了分析,以估计骨骼性别和祖先,遵循物理和分子管道。物理分析应用了形态和度量方法,为颅骨分类为性别或祖先群体提供了后验概率。分子分析是在岩骨上通过 shotgun 测序方法进行的,该方法允许我们确定每个人的性别,并从每个人身上获取完整的线粒体基因组、Y 染色体单核苷酸多态性,以及人类基因组中的 597573 个 SNP。形态性别分析表明,大多数颅骨属于男性个体,尽管有些估计仍然不确定或不确定。祖先估计也得到了不一致的结果,因为形态学方法将颅骨主要分类为欧洲/白种人,而颅测量分析确定的最常见形式是非洲人。这与分子分析非常一致,分子分析仅确定了非洲男性。总体而言,不同学科之间的结果不确定且相互矛盾,这阻止了创建可靠和合理的生物学特征,这些特征可以为受害者的性别和祖先群体提供指导。因此,物理和分子人类学的融合可能还不成熟。然而,对该研究方向的未来调查将为可能开发新的工具、方法和更广泛的参考数据库铺平道路,这些工具、方法和数据库可以解决两个学科的局限性。