title: Three new exon 10 glucose-6-phosphate dehydrogenase mutations.
abstract: Three previously undescribed mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene have been documented in patients with hereditary non-spherocytic hemolytic anemia (HNSHA). In none of the cases have we been able to obtain a sufficient volume of blood to characterize the residual enzyme biochemically. "G6PD Calvo Mackenna" was due to an A-->G transition in cDNA nucleotide 1138 creating an Aat II site and resulting in a substitution of valine for isoleucine at amino acid 380. "G6PD Riley" was due to a T-->C transition at cDNA nucleotide 1139 also changing the 380 isoleucine, in this case to a threonine. "G6PD Wisconsin" was due to an C-->G transversion in cDNA nucleotide 1177, destroying a Aci I site and resulting in a substitution of glycine for arginine at amino acid 393. All of these mutations were in exon 10, where mutations that cause HNSHA appear to be clustered. We present a list of the 83 mutations of G6PD that have been documented to the end of April, 1995.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: A
authors.initials: A
authors.lastname: Melemed
authors.forename: P
authors.initials: P
authors.lastname: Dal Borgo
authors.forename: D
authors.initials: D
authors.lastname: Margolis
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D004899:Erythroblastosis, Fetal / Q000150:complications; D005091:Exons / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000145:classification / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D018076:DNA, Complementary; C095434:glucose-6-phosphate dehydrogenase Calvo Mackenna; C095435:glucose-6-phosphate dehydrogenase Riley; C095433:glucose-6-phosphate dehydrogenase Wisconsin; D005954:Glucosephosphate Dehydrogenase