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Biomedical subjects

F Conconi

Publications and source records attributed to F Conconi.

At least 55 records · Page 3Linked to original sources
PubMed1981

Molecular characteristics of a non-deletion alpha-thalassaemia of the Po River Delta.

The form of alpha-thalassaemia of the Po river delta presents haematological and globin biosynthetic characteristics similar to alpha-thalassaemia-1 but never gives rise to HB H disease nor to hydrops foetalis. In alpha-thalassaemic subjects originally from this region globin mRNA translation and alpha-globin gene arrangement have been investigated. The data obtained indicate that alpha-globin synthesis and reticulocyte alpha-globin mRNA are reduced by one fourth; in addition, since the defect in alpha-globin synthesis does not change with cell ageing, a possible instability of alpha-globin mRNA is excluded. Restriction enzyme analysis of the DNA shows a normal alpha-globin gene organization. This form of alpha-thalassaemia is therefore of the non-deletion type; its molecular lesion is either at the level of alpha-globin mRNA transcription or processing. The fact that this, as well as other forms of non-deletion alpha-thalassaemia, have a phenotypic expression similar to alpha-thalassaemia 1 is discussed.

Genes↗
PubMed1980

[Determination of the anaerobic threshold by a noninvasive field in man].

The relationship between running velocity and heart rate has been determined in 320 runners. A deflection from the expected linearity of this relationship has been observed at sub-maximal running speeds. Deflection velocity and anaerobic threshold (established through blood lactate determination) were coincident in 10 runners, thus showing that the increase in running speed exceeding the augmentation in heart frequency above Vd depends on anaerobic ATP production.

Adult↗
PubMed1980

[Messenger RNA in cases of heterozygous beta and delta-beta Thalassemia. Biosynthetic and hybridization studies].

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.

Cell-Free System↗
PubMed1980

[Globin synthesis in erythroid cultures from normal and thalassemic subjects].

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.

Bone Marrow Cells↗
PubMed1980

Organization of alpha-globin genes and mRNA translation in subjects carrying haemoglobin Hasharon (alpha 47 Asp replaced by His) from the Ferrara Region (Northern Italy).

In subjects carrying the haemoglobin Hasharon mutation (alpha 47 replaced by His), originally from the delta of the Po river (Northern Italy), the concentration of the alpha-globin variant has been evaluated and found to be approximately 32%, a value definitely higher than that reported for the same mutant haemoglobin in other regions. Restriction enzyme analysis has been carried out on the DNA from these subjects; the data obtained indicate the presence of three alpha-globin genes per diploid cell. Family studies further show that the two normal genes are located on one chromosome and the Hasharon gene on the other. The origin of the single alpha-gene in the Hasharon-carrying subjects of the Ferrara region is discussed in connection with their haematological and biosynthetic data.

Aspartic Acid↗
PubMed1978

Decrease of alpha-Hasharon globin in beta-thalassaemia.

In time course experiments performed in subjects carrying haemoglobin Hasharon and beta-thalassaemia the synthesis of alphaA-, alphaHasharon-, beta- and gamma-globin has been determined. The alpha-globin molecules synthesized in excess were found to be removed from the red cell cytoplasm (phenomenon characteristic of beta-thalassaemia, described by Bargellesi et al, 1968a); in addition the alphaHasharon-globin molecules were removed at a faster rate than normal alpha-globin. The preferential removal of the mutant alpha-globin explains the reduced level of haemoglobin Hasharon found in subjects carrying the gene for beta-thalassaemia (Alberti et al, 1975). Reductions below normal levels of other haemoglobin variants occurring in the presence of the counterpart-globin thalassaemia are probably determined through a similar mechanism.

Genes↗