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Somatostatin (SRIF) inhibits calcitonin and T3-T4 secretion in thyroid. We have investigated the in vitro effect of SRIF on the basal and TSH induced [3H]thy incorporation, thyroglobulin (tgb) RNA and cAMP level in follicular cells, isolated from normal and adenomatous human thyroids. [3H]thy uptake has been evaluated as TCA-precipitable material in 2, 4, 8, 24 h incubated follicles and 24 h incubated adherent cells. Tgb RNA has been quantified with cytoplasmic dot blot hybridization and cAMP level with RIA method. SRIF reduces basal and TSH-induced [3H]thy in both suspension follicles and epithelial adherent cells. However it does not modify tgb RNA nor cAMP levels in incubated follicles. These data suggest a direct antiproliferative effect of SRIF on human thyroid.

In the context of a multidisciplinary study program whose purpose is to investigate the genetic aspects of Huntington's Chorea (HC), the authors conducted an epidemiological descriptive research extended to the population residing in the province of Ferrara in a time period including the years from 1971 to 1987. On December 31st, 1987 we estimated a prevalence rate of 1.89 cases of HC per 100,000 inhabitants; in the years 1971-1987 the incidence rate was of 0.11 per 100,000/year and the mortality rate of 0.06 per 100,000/year. In the last years considered for the study, the incidence and the prevalence showed a relative increase indicating that HC still exists in the ferrarese population, despite a greater public awareness. With the aim to organize preventive actions and to reach the preclinical diagnosis of the disease we singled out 83 subjects at risk the study area.

mRNA-cDNA hybridization, intact reticulocytes biosynthesis and heterologous cell-free translation studies have been performed in cases of heterozygous beta and delta beta thalassaemia. Results obtained have shown that the relative amount of beta mRNA is higher in Ferrara microcytes than in other heterozygous including delta beta. This indicates that transcription of beta globin gene takes place in Ferrara beta 0 thalassaemia. On the contrary globin biosynthesis studies have failed to show clear-cut differences among the various heterozygous considered and cannot evaluate the translatability of beta thal. FemRNA.

Relative alpha and beta chain synthesis in erythroid bursts derived from human bone marrow and peripheral blood are presented. The biosynthetic ratios obtained are compared with those of the reticulocytes. The data obtained cell culture are similar to the "in vivo" ones, showing and alpha/beta ratio of 1 in normal individuals and higher than 1 in beta thalassemic heterozygous. The use of erythroid cell culture as an experimental model for the study of differentiation at molecular level is therefore possible.

A library of genomic DNA was prepared from a patient with beta o Ferrara thalassaemia: random human DNA fragments (15 - 20 Kb) have been joined to phage lambda vectors and cloned has viable phage particles (4). 4x10(5) phages have been screened for their content in beta globin gene sequences, using a human beta cDNA plasmid (5) as hybridization probe. Five positive clones have been isolated and characterized by restriction endonuclease cleavage analysis and by the hybridization experiments. The results obtained allow the precise localization of the human fragments inside the beta like globin gene cluster (6). The comparison of the thalassaemic fragments with the normal DNA (6 - 7) shows two different restriction endonuclease sites, for Xba I and Eco RI respectively, downstream from the human beta globin gene.

We studied the relationship between heme accumulation and globin synthesis in human erythroid precursors which were stimulated by 2 I.U. of erythropoietin in semi-solid cultures (1% methyl-cellulose, 20% fetal calf serum) and treated with 6-9 micrograms/ml of desferrioxamina (DF), a potent inhibitor of heme synthesis (6). Heme accumulation was detected by specific reaction with benzidine (4), globin synthesis by CM-cellulose column chromatography. Our results demonstrate that globin gene expression occurs in DF-treated erythroid cells which do not accumulate heme molecules. As heme does affect translation and stability of globin mRNA (10) our system might be suitable for studies focused on pathological alterations of erythropoiesis associated with the presence of unstable globin mRNAs and/or unstable globins.