A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala→Gly), is the major polymorphic variant in tribal populations in India

• Published in: American journal of human genetics 1995-12, Vol.57 (6), p.1335-1341
• Main Authors: KAEDA, J. S, CHHOTRAY, G. P, MASON, P. J, RANJIT, M. R, BAUTISTA, J. M, REDDY, P. H, STEVENS, D, NAIDU, J. M, BRITT, R. P, VULLIAMY, T. J, LUZZATTO, L
• Format: Article
• Language: English
• Subjects: Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Chromosome Mapping; Diseases of red blood cells; Genetic Variation; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - genetics; Hematologic and hematopoietic diseases; Humans; India; Kinetics; Male; Medical sciences; Molecular Sequence Data; Original; Polymerase Chain Reaction; Polymorphism, Genetic
• ISSN: 0002-9297; 1537-6605

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is usually found at high frequencies in areas of the world where malaria has been endemic. The frequency and genetic basis of G6PD deficiency have been studied in Africa, around the Mediterranean, and in the Far East, but little such information is available about the situation in India. To determine the extent of heterogeneity of G6PD, we have studied several different Indian populations by screening for G6PD deficiency, followed by molecular analysis of deficient alleles. The frequency of G6PD deficiency varies between 3% and 15% in different tribal and urban groups. Remarkably, a previously unreported deficient variant, G6PD Orissa (44 Ala-->Gly), is responsible for most of the G6PD deficiency in tribal Indian populations but is not found in urban populations, where most of the G6PD deficiency is due to the G6PD Mediterranean (188 Ser-->Phe) variant. The KmNADP of G6PD Orissa is fivefold higher than that of the normal enzyme. This may be due to the fact that the alanine residue that is replaced by glycine is part of a putative coenzyme-binding site.