Supreme Council of Antiquities, Cairo, Egypt.
JAMA. 2010 Feb 17;303(7):638-47. doi: 10.1001/jama.2010.121.
The New Kingdom in ancient Egypt, comprising the 18th, 19th, and 20th dynasties, spanned the mid-16th to the early 11th centuries bc. The late 18th dynasty, which included the reigns of pharaohs Akhenaten and Tutankhamun, was an extraordinary time. The identification of a number of royal mummies from this era, the exact relationships between some members of the royal family, and possible illnesses and causes of death have been matters of debate.
To introduce a new approach to molecular and medical Egyptology, to determine familial relationships among 11 royal mummies of the New Kingdom, and to search for pathological features attributable to possible murder, consanguinity, inherited disorders, and infectious diseases.
From September 2007 to October 2009, royal mummies underwent detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. Mummies distinct from Tutankhamun's immediate lineage served as the genetic and morphological reference. To authenticate DNA results, analytical steps were repeated and independently replicated in a second ancient DNA laboratory staffed by a separate group of personnel. Eleven royal mummies dating from circa 1410-1324 bc and suspected of being kindred of Tutankhamun and 5 royal mummies dating to an earlier period, circa 1550-1479 bc, were examined.
Microsatellite-based haplotypes in the mummies, generational segregation of alleles within possible pedigree variants, and correlation of identified diseases with individual age, archeological evidence, and the written historical record.
Genetic fingerprinting allowed the construction of a 5-generation pedigree of Tutankhamun's immediate lineage. The KV55 mummy and KV35YL were identified as the parents of Tutankhamun. No signs of gynecomastia and craniosynostoses (eg, Antley-Bixler syndrome) or Marfan syndrome were found, but an accumulation of malformations in Tutankhamun's family was evident. Several pathologies including Köhler disease II were diagnosed in Tutankhamun; none alone would have caused death. Genetic testing for STEVOR, AMA1, or MSP1 genes specific for Plasmodium falciparum revealed indications of malaria tropica in 4 mummies, including Tutankhamun's. These results suggest avascular bone necrosis in conjunction with the malarial infection as the most likely cause of death in Tutankhamun. Walking impairment and malarial disease sustained by Tutankhamun is supported by the discovery of canes and an afterlife pharmacy in his tomb.
Using a multidisciplinary scientific approach, we showed the feasibility of gathering data on Pharaonic kinship and diseases and speculated about individual causes of death.
古埃及新王国时期包括第十八、十九和二十王朝，时间跨度为公元前 16 世纪中期至 11 世纪早期。第十八王朝后期包括法老阿肯那顿和图坦卡蒙的统治时期，是一个非凡的时代。这一时期有许多王室木乃伊被确认身份，一些王室成员之间的确切关系，以及可能的疾病和死因一直存在争议。
引入一种新的分子医学埃及学方法，确定新王国时期 11 具王室木乃伊之间的家族关系，并寻找可能的谋杀、血缘关系、遗传疾病和传染病的病理特征。
2007 年 9 月至 2009 年 10 月，作为图坦卡蒙家族项目的一部分，王室木乃伊接受了详细的人类学、放射学和遗传学研究。与图坦卡蒙直系血统不同的木乃伊被用作遗传和形态学参考。为了验证 DNA 结果，在由另一组人员组成的第二个古 DNA 实验室中重复了分析步骤，并进行了独立复制。检查了 11 具可追溯至公元前 1410-1324 年、疑似与图坦卡蒙有亲缘关系的王室木乃伊，以及 5 具可追溯至公元前 1550-1479 年的更早时期的王室木乃伊。
木乃伊中基于微卫星的单倍型、可能的谱系变体中等位基因的世代分离，以及所确定疾病与个体年龄、考古证据和书面历史记录的相关性。
遗传指纹分析允许构建图坦卡蒙直系血统的 5 代家谱。KV55 木乃伊和 KV35YL 被确定为图坦卡蒙的父母。未发现男性乳房发育症和颅缝早闭（例如，安特利-比克斯勒综合征）或马凡综合征的迹象，但图坦卡蒙家族的畸形积累明显。在图坦卡蒙身上诊断出包括科勒病 II 在内的多种疾病，但没有一种疾病会导致死亡。对疟原虫 falciparum 的 STEVOR、AMA1 或 MSP1 基因进行基因检测显示，4 具木乃伊（包括图坦卡蒙）中存在疟疾热带的迹象。这些结果表明，在疟疾感染的情况下，血管性骨坏死可能是导致图坦卡蒙死亡的最可能原因。在他的坟墓中发现了手杖和来世药房，这表明图坦卡蒙患有行走障碍和疟疾。
利用多学科科学方法，我们展示了收集法老亲属关系和疾病数据并推测个人死因的可行性。
