SOD-A activity was measured by the polarographic method of catalytic currents in 30 subjects 10-24 years of age with a karyotype 47, + 21, and 30 age matched normal subjects. The ratio of the average amount of SOD-A in 21-trisomic cells to the average amount in normal cells is 1.4495. Statistical analysis confirms that this ratio does not differ significantly from the ratio 1.5 expected in the case of a simple gene dosage effect.

Data are reported on the distribution of SOD-A electrophoretic phenotypes in the Italian population, and on the concentration of SODA-A-2-1 phenotype in a family group of a small village. The frequency of the rate allele SOD-A(2) is estimated and compared with the frequency in other populations. By applying a model of population dynamics for rare neutral genes estimates are derived of the mean first arrival time and mean age, in generations, of SOD-A(2) allele.

Phenotype and allele frequencies for hemoglobin types (Hb beta), acid phosphatase (AcP), phosphoglucomutase (PGM1 and PGM2), esterase D (EsD), 6-phosphogluconate dehydrogenase (6-PGD), glyoxalase I (GLO), superoxide dismutase (SOD A), and adenylate kinase (AK) as well as for haptoglobins (Hp), group-specific component (Gc), transferrin (Tf), Gm, and Inv groups and albumin, are reported in the Mbugu, Sango, Yakpa, and Baya Mandja ethnic groups in the Basse Kotto district of the Central African Republic. The total sample size amounts to 133 males and 128 females aged from 16 to 60, unrelated and healthy. A new albumin variant (albumin Mbugu) is described and discussed. The average heterozygosity is high in each group because of a high degree of exogamy. the FST average standardized value among the four groups indicates that the genetic differentiation in Basse Kotto is at level of about 2%. This indicates that the four examined groups might be considered genetically homogeneous, in spite of their different ethnic origins. The genetic distances among the four groups show that only the Baya Mandja are less closely related to the other three groups because of their foreign origin.

CuZnSOD is produced in overdose in cells with trisomy 21. This has been considered to be a cause of increased oxidative stress. In the present work we have studied the catalase and glutathione peroxidase activity in fibroblasts from 6, and blood cells from 30, subjects affected by Down syndrome. In the fibroblasts, catalase and glutathione peroxidase activities did not differ significantly from control cells. In platelets, lymphocytes, polymorphs and erythrocytes, no significant increase of catalase activity was found while glutathione peroxidase activity appeared significantly increased in platelets, polymorphs and erythrocytes but not in lymphocytes. These data seem to indicate that the increase of CuZnSOD in trisomy 21 cells does not affect the production of catalase. An increase, instead, of glutathione peroxidase has been detected in all blood cells, except in lymphocytes; this is a sign of a greater need for protection against the risk of lipoperoxidation. The fact that the enhancement of glutathione peroxidase activity could be assessed only in some types of cells examined suggests that the observed increase in those cells is probably a result of an additive effect of the overproduction of CuZnSOD due to gene dosage and the ordinarily higher content of oxygen radicals and peroxides.

No abstract