H. Vergnes

Isoelectric Focusing of Human Phosphoglucomutase

Leukocyte lysates obtained from blood specimens of individuals from Central and Western Pyrenean groups (Bareges and Basques) and from the population of Toulouse city have been typed for PGMa

Study of Red Blood Cell and Serum Enzymes in Five Pyrenean Communities and in a Basque Population Sample

Until recently, no data on genetic polymorphisms in the populations living on the northern side of the Pyrenees have been available, except for the Basques. Several investigations were done lately on rural communities in various geographic zones in the Pyrenees from the eastern to the western part. In this paper, the results for the following enzyme polymorphisms are reported: acid phosphatases, AK, ADA, PGM1 and PGM2, 6PGD, NADH diaphorase, SOD, MDH, TGP, G6PD, C5 esterase (E2 locus), serum cholinesterase (E1 locus). Significant variation in gene frequencies was observed over the distinct geographic zones for the main polymorphic system. Furthermore, some rare alleles were found: a new G6PD variant (Luz-Saint-Sauveur), the presence of ADA3 and ADA5 alleles in two groups of the Central Pyrenees, a Dia2 gene among Basques and in the Pays de Sault, a high rate of Ea1 allele in the Basque group. The values obtained for the degree of heterozygosity are in agreement with the relative isolation of the different groups studied and confirm the importance of sociocultural factors in the evolution of the genetic background of rural communities in Europe.

Glucose-6-Phosphate Dehydrogenase Toulouse

A new G-6-PD variant has been discovered in a 6-year-old boy, who is a carrier of a severe enzyme deficiency, with a typical favism background. The patient is of South Italian ancestry, and the enzyma

Gd(-) Muret and Gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism

SummaryTwo males subjects are described with hitherto undescribed glucose-6-phosphate dehydrogenase (G6PD) variants. The first is of French ancestry, the second of Sicilian extraction. Each subject suffered from acute hemolytic anemia following ingestion of broad beans (Vicia fava). In both cases the hemolytic crisis occurred in a late period of life (29 and 58 years). No previous hemolytic crisis was recorded. The electrophoretic and kinetic properties of the mutant enzymes examined after purification from the red cells allowed each to be distinguished from other G6PD variants reported until now. The first variant was named Gd(-) Muret, the other Gd(-) Colomiers.

Genetic Variants of Human Glucose-6-Phosphate Dehydrogenase in a Saharian and Pygmy Family

In two African communities, inhabitants of a Western Sahara oasis and Bi-Aka Pygmies (Central Africa), a genetic study of the distribution of G6PD phenotypes has been undertaken. Obtained data show the existence in both groups of slow electrophoretic variants with no enzyme deficiency or moderately reduced activity. Biochemical characterization of G6PD types was performed. In the Saharian family in which inheritance pattern of mutant G6PD was investigated, two alleles were found, the Negroid marker GdA- and Gd+Madrona, segregating among the different members. In the Pygmy family the Gd+Ibadan-Austin gene was detected. The incidence of these mutations in the groups studied, a comparison with similar G6PD variants observed in other African populations and the geographic distribution of these slow molecules are discussed in this paper.

G6PD lozere and trinacria-like

SummaryTwo new G6PD variants have been found in red blood cells of the members of a French family originating from Lozere. The father is hemizygous for an electrophoretically fast variant with mild enzyme deficiency (50–60% of normal). The abnormal paternal G6PD gene is segregating in his daughter who is double heterozygous for maternal and paternal variants. This mutant enzyme, different from previously described variants is designated as Gd Lozère. The mother is heterozygous for another G6PD variant. Two sons are hemizygous for this latter mutant enzyme characterized by a moderate deficiency (25–30% of normal) and slower electrophoretic mobility with some slightly altered kinetic properties. This G6PD has been identified as Gd Trinacria like.These two abnormal enzymes are not associated with any hemolytic problem. Case reported is the first showing the segregation of two new mutant enzymes, distinct from common G6PD variants, among the members of the same family.

Heterogeneity of erythrocyte pyruvate kinase deficiency and related metabolic disorders in patients with hematological diseases

In several patients suffering from congenital non-spherocytic hemolytic anemia or from malignant hemotological disorder associated with erythrocyte pyruvate kinase (PK) deficiency, a metabolic study has been carried out involving the following biochemical determinations: assay of red cell enzyme activities; estimation of glucose consumption; measurement of the rate of glycolytic intermediates; and, in some cases, enzyme purification and characterization of the PK variant. Metabolic equilibrium most probably does not depend on kinetic characteristics of PK molecules. Furthermore, the data obtained allow separation of cases with congenital non-spherocytic hemolytic anemia (hereditary defect) and acquired PK deficiencies.

Déficit en pyruvate kinase érythrocytaire accompagné d’une anémie hémolytique néonatale sévère

A case of severe neonatal hemolytic anemia caused by an erythrocytic pyruvate kinase deficiency is described. A comparative analysis of the hematimetric and biochemical data has been made. The purific