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7 results on '"Modiano, G"'

1. Ultracentrifuge studies of red cell phosphoglucomutase

Author

Santachiara As and Modiano G

Subjects
Genetics, Multidisciplinary, Erythrocytes, Red Cell, Biology, Molecular Weight, Phosphoglucomutase, PGM1, Centrifugation, Density Gradient, Ultracentrifuge, Allele, Gene, Molecular Biology, Alleles
Abstract

THE red cell phosphoglucomutase electrophoretic pattern depends on two independent autosomal loci, PGM1 and PGM2 (refs. 1 and 2). The first one is polymorphic in all the races3, the second only among Negroes3,4. A number of rare variants of both the PGM1 and PGM2 genes have also been described3. The genetics of phosphoglucomutase has been comprehensively reviewed5. A set of at least two electrophoretic bands are associated with each PGM1 or PGM2 allele.

Published
1969

6. Haemoglobin C protects against clinical Plasmodium falciparum malaria.

Author

Modiano D, Luoni G, Sirima BS, Simporé J, Verra F, Konaté A, Rastrelli E, Olivieri A, Calissano C, Paganotti GM, D'Urbano L, Sanou I, Sawadogo A, Modiano G, and Coluzzi M

Subjects
Adolescent, Africa, Western, Animals, Burkina Faso, Case-Control Studies, Child, Child, Preschool, Gene Frequency, Hemoglobin C genetics, Heterozygote, Homozygote, Humans, Immunity, Innate, Infant, Malaria, Falciparum genetics, Plasmodium falciparum immunology, Hemoglobin C physiology, Malaria, Falciparum immunology
Abstract

Haemoglobin C (HbC; beta6Glu --> Lys) is common in malarious areas of West Africa, especially in Burkina Faso. Conclusive evidence exists on the protective role against severe malaria of haemoglobin S (HbS; beta6Glu --> Val) heterozygosity, whereas conflicting results for the HbC trait have been reported and no epidemiological data exist on the possible role of the HbCC genotype. In vitro studies suggested that HbCC erythrocytes fail to support the growth of P. falciparum but HbC homozygotes with high P. falciparum parasitaemias have been observed. Here we show, in a large case-control study performed in Burkina Faso on 4,348 Mossi subjects, that HbC is associated with a 29% reduction in risk of clinical malaria in HbAC heterozygotes (P = 0.0008) and of 93% in HbCC homozygotes (P = 0.0011). These findings, together with the limited pathology of HbAC and HbCC compared to the severely disadvantaged HbSS and HbSC genotypes and the low betaS gene frequency in the geographic epicentre of betaC, support the hypothesis that, in the long term and in the absence of malaria control, HbC would replace HbS in central West Africa.

Published
2001
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