Marin A, Cerutti N, Massa E R
Dipartimento di Biologia Animale e dell'Uomo, Università degli Studi di Torino.
Boll Soc Ital Biol Sper. 1999 May-Jun;75(5-6):27-30.
We conducted a molecular investigation of the presence of sicklemia in six predynastic Egyptian mummies (about 3200 BC) from the Anthropological and Ethnographic Museum of Turin. Previous studies of these remains showed the presence of severe anemia, while histological preparations of mummified tissues revealed hemolytic disorders. DNA was extracted from dental samples with a silica-gel method specific for ancient DNA. A modification of the polymerase chain reaction (PCR), called amplification refractory mutation system (ARMS) was then applied. ARMS is based on specific priming of the PCR and it permits diagnosis of single nucleotide mutations. In this method, amplification can occur only in the presence of the specific mutation being studied. The amplified DNA was analyzed by electrophoresis. In samples of three individuals, there was a band at the level of the HbS mutated fragment, indicating that they were affected by sicklemia. On the basis of our results, we discuss the possible uses of new molecular investigation systems in paleopathological diagnoses of genetic diseases and viral, bacterial and fungal infections.
我们对都灵人类学与民族学博物馆中六具前王朝时期埃及木乃伊（约公元前3200年）是否存在镰状细胞贫血症进行了分子研究。此前对这些遗骸的研究显示存在严重贫血，而木乃伊化组织的组织学切片显示有溶血性疾病。采用针对古DNA的硅胶法从牙齿样本中提取DNA。随后应用了一种称为扩增阻滞突变系统（ARMS）的聚合酶链反应（PCR）改良方法。ARMS基于PCR的特异性引物设计，可用于诊断单核苷酸突变。在这种方法中，只有在存在所研究的特定突变时才会发生扩增。对扩增的DNA进行电泳分析。在三个个体的样本中，在HbS突变片段水平出现了条带，表明他们患有镰状细胞贫血症。基于我们的研究结果，我们讨论了新的分子研究系统在遗传疾病以及病毒、细菌和真菌感染的古病理学诊断中的可能用途。
