Medical College of Wisconsin
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Three new exon 10 glucose-6-phosphate dehydrogenase mutations. Blood Cells Mol Dis 1995;21(1):64-72



Pubmed ID




Scopus ID

2-s2.0-0029003588   22 Citations


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.

Author List

Beutler E, Westwood B, Melemed A, Dal Borgo P, Margolis D


David A. Margolis MD Interim Chair, Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Anemia, Hemolytic, Congenital Nonspherocytic
Child, Preschool
DNA Mutational Analysis
DNA, Complementary
Erythroblastosis, Fetal
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Infant, Newborn
Polymorphism, Single-Stranded Conformational