Use of the amplification refractory mutation system (ARMS) in the study of HbS in predynastic Egyptian remains.

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.

Immunological investigation of malaria and new perspectives in paleopathological studies.

We applied a paleoimmunological investigation, using an immunoenzymatic assay revealing trophozoite derived Plasmodium falciparum histidine rich protein-2 antigen (PfHRP-2). The investigation was carried out on skin, muscle and bone samples. We examined predynastic egyptian mummies (3200 B.C.) from Gebelen, belonging to the Marro's Collection of the Anthropological and Ethnographic Museum of Turin, to assay the presence of malaria. The results obtained suggest an incidence of malaria of about 40% in the mummies of Gebelen group. Data are compatible with other observations effected on populations living in similar ecological conditions of malarial areas.

Paracentric inversion in a female with multiple miscarriages (7inv)(q2.13;q3.13).

A phenotypically normal woman with a history of multiple miscarriages was found to have a paracentric inversion in the long arm of chromosome, which may be the reason for the miscarriages.

Biological distances calculated using hematologic data among three isolate populations (Blins, Chateaudauphin, La Chianal) of an Italian Alpine Valley (High Varaita Valley).

The data on a hematologic study of Alpine populations are presented; the determination of some hemogroups of the three isolate populations of Blins, Chateaudauphin and La Chianal in Varaita Valley has been done. Particularly for Blins inhabitants, serum albumin, haptoglobins and the antigens Gm and Inv, are studied. On the basis of the gene frequencies of haptoglobins and the Gm and Inv systems, the population of Blins shows a slight degree of homogeneity. According to the Spuhler method, using gene frequencies of ABO, MN and the Kell system, the biological distances between the three communes, hamlets and patronymic groups have been calculated. The results of this analysis demonstrate a typical genetic structure of the Varaita Valley population. A comparison of gene frequencies of ABO and Rh systems with the Italian national average and neighbouring populations shows wide differences, a consequence of endogamy and the high isolation rate. A wide difference may also be observed between the different hamlets as a consequence of family and socioeconomic structures.