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

Abstract

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is usually found at high frequencies in areas of the world where malaria has been epidemic. 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{yields}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{yields}Phe) variant. The K{sup NADP}{sub m} 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. 37 refs., 2 figs., 3 tabs.

Authors:
; ;  [1]
  1. Univ. College London Medical School (United Kingdom); and others
Publication Date:
OSTI Identifier:
186203
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 57; Journal Issue: 6; Other Information: PBD: Dec 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; OXIDOREDUCTASES; GENES; GENE MUTATIONS; SCREENING; INDIA; PATIENTS; METABOLIC DISEASES; ENZYMES; AMINO ACIDS

Citation Formats

Kaeda, J S, Bautista, J M, and Stevens, D. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala{yields}Gly), is the major polymorphic variant in tribal populations in India. United States: N. p., 1995. Web.
Kaeda, J S, Bautista, J M, & Stevens, D. A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala{yields}Gly), is the major polymorphic variant in tribal populations in India. United States.
Kaeda, J S, Bautista, J M, and Stevens, D. Fri . "A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala{yields}Gly), is the major polymorphic variant in tribal populations in India". United States.
@article{osti_186203,
title = {A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala{yields}Gly), is the major polymorphic variant in tribal populations in India},
author = {Kaeda, J S and Bautista, J M and Stevens, D},
abstractNote = {Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is usually found at high frequencies in areas of the world where malaria has been epidemic. 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{yields}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{yields}Phe) variant. The K{sup NADP}{sub m} 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. 37 refs., 2 figs., 3 tabs.},
doi = {},
journal = {American Journal of Human Genetics},
number = 6,
volume = 57,
place = {United States},
year = {1995},
month = {12}
}