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Biomedical subjects

R Charlionet

Publications and source records attributed to R Charlionet.

31 records · Page 2Linked to original sources

Synthesis of highly diversified carrier ampholytes. Evaluation of the resolving power of isoelectric focusing in the Pi system (alpha-1-antitrypsin genetic polymorphism).

The use of condensing reagents such as epoxypropanol, diepoxyoctane, acrylamide and N,N'-methylenebisacrylamide in the synthesis of carrier ampholytes increased the diversity of amphoteric components. The quality of these synthetic carrier ampholytes has been tested in the separation of variants of alpha-1-anti-trypsin, a genetic polymorphism called the Pi system. A resolving power of the order of 0.005 pH unit was obtained.

Ampholyte Mixtures↗

Genetic variants of serum alpha1-antitrypsin (Pi types) in Portuguese.

The results of Pi typing on 330 Portuguese from the area of Lisbon are reported. We found six phenotypes and four alleles out of the 24 described in the literature. The allele PiM is the most frequent as in other populations, PiS shows a high frequency (0.1152), and PiF is absent, which agrees satisfactorily with former studies carried out in Spain. These results are compared with others and the entity of the Iberian population is evoked.

Female↗

Does alpha-1-antitrypsin P1 null phenotype exist?

A second case of Pi null alpha-1-antitrypsin (AA) deficiency is described. In fact, the serum's subject contains 5 mug of AA per millilitre. With radiolabelled specific antibodies, it is possible to describe the Pi phenotype associated to this deficiency. The pattern which is obtained is like the ordinary Pi M, but 500 times lower than normal values. In contrast to a common deficient variant (ZZ or MZ), the subject tissues do not contain periodic acid-schiff positive inclusion bodies. The "normal" pattern obtained after antigen-antibody crossed electrophoresis, would be in favour of a deficient anomaly hereditarily transmitted.

Alleles↗