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New genetic variants of glucose 6‐phosphate dehydrogenase (G6PD) in Italy
Author(s) -
SANSONE G.,
PERRONI L.,
TESTA U.,
MARENI C.,
LUZZATTO L.
Publication year - 1981
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1981.tb00310.x
Subject(s) - haemolysis , glucosephosphate dehydrogenase deficiency , glucose 6 phosphate dehydrogenase , biology , genetics , dehydrogenase , genetic variants , enzyme , evolutionary biology , biochemistry , gene , genotype , immunology
SUMMARY Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.