TY - JOUR
T1 - A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova) - Biochemical characterization and mosaicism expression in the heterozygote
AU - Gaetani, Gian Franco
AU - Galiano, Silvana
AU - Melani, Cecilia
AU - Miglino, Maurizio
AU - Forni, Gian Luca
AU - Napoli, Giuseppe
AU - Perrone, Lucia
AU - Ferraris, Anna Maria
PY - 1990/3
Y1 - 1990/3
N2 - A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.
AB - A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.
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U2 - 10.1007/BF00196229
DO - 10.1007/BF00196229
M3 - Article
C2 - 2307454
AN - SCOPUS:0025178663
VL - 84
SP - 337
EP - 340
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -