A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.
Hum Genet
; 84(4): 337-40, 1990 Mar.
Article
em En
| MEDLINE
| ID: mdl-2307454
ABSTRACT
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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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Glucosefosfato Desidrogenase
/
Deficiência de Glucosefosfato Desidrogenase
/
Anemia Hemolítica Congênita
/
Anemia Hemolítica Congênita não Esferocítica
/
Mosaicismo
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1990
Tipo de documento:
Article
País de afiliação:
Itália