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Biomedical subjects

G Pepe

Publications and source records attributed to G Pepe.

At least 163 records · Page 9Linked to original sources

The characterization of the area of rat mitochondrial DNA containing the large ribosomal RNA gene.

The base sequence of the Eco-RI D fragment from rat liver mtDNA, cloned in recombinant plasmid, has been analyzed, This fragment contains the genes for the 16SRNA of the large ribosomal subunit and the tRNA(Leu). Comparisons between these genes and corresponding regions either in other mitochondrial genomes or in E. coli DNA are presented, that allow some interesting evolutionary and phylogenetic considerations.

Animals↗

Genetic and biochemical heterogeneity of beta-thalassaemia in Naples.

We have investigated 32 children with Cooley's anaemia from Naples, Italy. Criteria for inclusion in the study were: (a) typical clinical and haematological findings; (b) absolute transfusion requirement; and (c) elevated Hb A2 in both parents. From biosynthetic studies we have established that five children (including two sets of sibs) had beta-0 thalassaemia, while the rest had beta + thalassaemia. Thus, the frequency of beta + thalassaemia among unrelated patients was about 90%. The distribution of beta/alpha ratios among beta + patients ranged from 0.01 to 0.16 and it was bimodal, consistent with some of them having a beta-0/beta + genotype and others a beta +/beta + genotype. The distribution of beta/alpha ratios of the patients' parents (obligate heterozygotes) ranged from 0.24 to 0.73, and it was plurimodal, consistent with the coexistence in this population of multiple beta thalassaemia alleles, of which one must be beta-0 and at least one is beta +. A systematic analysis of 20 families indicates that the beta/alpha ratio is to some extent quantitatively inherited, and its suggests non-randomness in the assortment of beta thalassaemia alleles that can give rise to a Cooley's phenotype.

Adolescent↗

Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).

In each of two families from Sardinia, Italy, we have found segregation for two alpha-chain hemoglobin variants, which we have identified as G Philadelphia [alpha 68 (E17) Asn leads to Lys] and J Sardinia [alpha 50 (CE8) His leads to Asp], respectively. One family also shows segregation for the beta-thalassemia trait. One subject in one family and two subjects in the other family have in their red cells both hemoglobin variants, G and J, in addition to HbA. One of the subjects, a newborn baby, has six major hemoglobin components; alpha 2A beta 2, alpha 2A gamma 2, alpha 2G beta 2, alpha 2G gamma 2, alpha 2J beta 2, alpha 2J gamma 2. These three cases are to be added to three previous cases in the literature in whom three different alpha-chains have been found in the same blood. These findings prove that the alpha-chain locus is duplicated in the Sardinian population, as it is in other populations. The relative amounts of the various hemoglobin species found in members of our two families, through three and four generations respectively, suggest that chromosomes with and without duplication may coexist in the same population.

Blood Protein Electrophoresis↗

HBsAg uptake by macrophages in vitro: an immunofluorescence study.

The uptake of HBsAg by in vitro cultured macrophages was studied by immunofluorescence method. Intracytoplasmic fluorescent particles appeared 3 h after the contact with HBsAg-positive serum, while after 24-48 h only a few cells contained these particles, which are probably destroyed within the cytoplasm.

Animals↗

The influence of some metabolic inhibitors on phagocytic activity of mouse macrophages in vitro.

The action of different metabolic inhibitors on phagocytosis by macrophages from mouse peritoneal exudate cultured in vitro was studied. The following metabolic inhibitors were tested: sodium iodoacetate, sodium fluoride, sodium fluoroacetate, sodium malonate, 2-4-dinitrophenol, sodium azide, ouabain and cycloheximide, all at the concentration of 10(-3) M. Iodoacetate caused a strong inhibitory effect on phagocytosis; this observation confirms that glycolysis is the main source of energy for the phagocytic process. On the contrary, fluoride, although it is an effective inhibitor of glycolysis, did not exert any effect. This difference may be explained by the fact that sodium fluoride blocks anaerobic glycolysis only in vitro at an unphysiological temperature (0 degrees C). Fluoroacetate and malonate, two compounds which interfere with the Krebs cycle, did not inhibit phagocytosis, but it is known that the Krebs cycle activity is poorly developed in the macrophagic cells. Sodium azide and 2-4-dinitrophenol, two inhibitors of oxidative phosphorylation, showed an effect on phagocytosis only after 3 h of contact with the cell cultures. Ouabain blocks Na+ and K+ transport across the plasma membrane and, probably, it inhibited phagocytosis by interfering with the movements of the cell membrane. Finally, the mode of action of cycloheximide on phagocytosis is uncertain. This compound inhibits the protein synthesis and, perhaps, it can act by preventing the renewal of the cell membrane.

Animals↗

Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

Globin messenger RNA (mRNA) isolated from three patients homozygous for hemoglobin Lepore is shown to have a marked reduction of the amount of beta-like globin mRNA (Lepore-globin mRNA sequences) compared with alpha-globin mRNA by molecular hybridization. The relative amounts of alpha- and Lepore mRNA are similar to the amounts of alpha- and Lepore globin synthesized in intact cells and by isolated mRNA in a cell-free system. It is also demonstrated that Lepore-globin mRNA can completely hybridize to full-length or nearly full-length beta-globin specific complementary DNA and protect it from nuclease digestion, indicating close homology between the delta-mRNA sequences present in Lepore mRNA and the beta-complementary-DNA probe. We have also quantitated the numbers of beta-like globin gene sequences in genomic Lepore DNA by molecular hybridization and demonstrated a reduction in their number consistent with the Lepore gene being a delta beta-gene fusion product.

Adolescent↗

Maternal betamethasone and fetal growth and development in the monkey.

Bethamethasone was administered to pregnant rhesus monkeys of 134 to 150 days' gestation. At operative delivery, umbilical venous plasma cortisol concentrations were significantly lower in the treated group than in the control group, indicating that the agent crossed the placenta. In the treated group, accelerated differentiation was present in several fetal organs including lung, liver, kidney, and adrenal gland. Brain histologic changes suggestive of neuronal injury were found in some instances. There were no differences in the weights of these fetal organs except for liver. It was markedly increased in steroid-treated fetuses and this was accompanied by a fourfold rise in total hepatic glycogen content. These observations suggest that in the subhuman fetal primate, the differentiation of fetal organs in addition to lung is enhanced by short-term corticosteroid treatment while growth is not affected.

Animals↗