Abstract
The technique of heat denaturation was used in addition to electrophoresis for the detection of thermostability variants of hemoglobin and glucose-6-phosphate dehydrogenase in an attempt to measure the amount of genetic variability present in villages in the United Republic of Cameroon, Equatorial Africa. A minimum of three to a maximum of 13 thermostability variants were estimated for HbA and HbS, and a minimum of two to a maximum of ten thermostability variants were estimated for GdA, GdB, and GdA —. It is suggested that hemoglobin and glucose-6-phosphate dehydrogenase thermostability variants are genetically determined and that the sites of these variants are at the hemoglobin and glucose-6-phosphate dehydrogenase structural loci. The evidence for the existence of these hidden variants and their importance in the neutralist v. selectionist controversy are discussed.
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References
Bernstein, S. C., Throckmorton, L. H., and Hubby, J. L. (1973). Still more genetic variability in natural populations. Proc. Natl. Acad. Sci. USA 703928.
Beutler, E., and Yoshida, A. (1973). Human glucose-6-phosphate dehydrogenase variants: A supplementary tabulation. Ann. Hum. Genet. 37151.
Beutler, E., Duron, O., and Kelly, B. M. (1963). Improved method for the determination of blood glutathione. J. Lab. Clin. Med. 61882.
Bunn, H. F., Forget, B. G., and Ranney, H. M. (1977). Human Hemoglobins Saunders Co., New York, p. 194.
Carson, P. E., Schrier, S. L., and Kellermeyer, R. W. (1959). Glucose-6-phosphate dehydrogenase and human erythrocytes: Characteristics of glucose-6-phosphate dehydrogenase from normal and primaquine-sensitive erythrocytes. Nature 1841292.
Dacie, J. V., Grimes, A. J., Meisler, A., Steingold, I., Hemsted, E. H., Beaven, G. H., and White, J. C. (1964). Hereditary Heinz body anaemia: A report of studies on five patients with mild anaemia. Br. J. Haematol. 10388.
Daland, G. A., and Castle, W. B. (1948). A simple and rapid method for demonstrating sickling of the red blood cells: The use of reducing agents. J. Lab. Clin. Med. 331085.
Ellis, N., and Alperin, J. B. (1972). A rapid method for electrophoresis of erythrocyte glucose-6-phosphate dehydrogenase on cellulose acetate plates. Am. J. Clin. Pathol. 57534.
Glock, G. E., and McLean, P. (1953). Further studies on the properties and assay of glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase of rat liver. Biochem. J. 55400.
Greenberg, M. S., Harvey, H. A., and Morgan, C. (1972). A simple and inexpensive screening test for sickle hemoglobin. New Engl. J. Med. 2861143.
Harris, H. (1966). Enzyme polymorphisms in man. Proc. Roy. Soc. Lond. Ser. B 164298.
Hubby, J. L., and Lewontin, R. C. (1966). A molecular approach to the study of genic heterozygosity in natural populations. I. The number of alleles at different loci in Drosophila pseudoobscura. Genetics 54577.
International Committee for Standardization in Haematology (1967). Recommendations for haemoglobinometry in human blood. Br. J. Haematol. Suppl. 1371.
Jacob, H. S., Brain, M. C., and Dacie, J. V. (1968a). Altered sulfhydryl reactivity of hemoglobins and red cell membranes in congenital Heinz body hemolytic anemia. J. Clin. Invest. 472664.
Jacob, H. S., Brain, M. C., Dacie, J. V., Carrell, R. W., and Lehmann, H. (1968b). Abnormal haem binding and globin SH group blockage in unstable haemoglobins. Nature 2181214.
Kinderlerer, J., Lehmann, H., and Tipton, K. F. (1973). The thermal denaturation of human oxyhaemoglobins A, A2, C and S. Biochem. J. 135805.
Kirkman, H. N. (1962). Glucose-6-phosphate dehydrogenase from human erythrocytes. I. Further purification and characterization. J. Biol. Chem. 2372364.
Kirkman, H. N. (1971). Glucose-6-phosphate dehydrogenase. In Harris, H., and Hirshhorn, K. (eds.), Advances in Human Genetics, Vol. II, Plenum Press, New York, p. 1.
Lehmann, H., and Kynoch, P. A. M. (1976). Human Haemoglobin Variants and Their Characteristics North-Holland, Amsterdam.
Luffman, J. E., and Harris, H. (1967). A comparison of some properties of human red cell acid phosphatase in different phenotypes. Ann. Hum. Genet. 30387.
Luzzatto, L., Allan, N. C., and DeFlora, A. (1965). Genetic polymorphism of glucose-6-phosphate dehydrogenase. Biochem. J. 9719.
McAlpine, P. J., Hopkinson, D. A., and Harris, H. (1970). Thermostability studies on the isozymes of human phosphoglucomutase. Ann. Hum. Genet. 3461.
Manwell, C., and Baker, C. M. A. (1970). Molecular Biology and the Origin of Species University of Washington Press, Seattle.
Marengo-Rowe, A. J. (1965). Rapid electrophoresis and quantitation of hemoglobins on cellulose acetate. J. Clin. Pathol. 18790.
Markert, C. L. (1968). The molecular basis for isozymes. Ann. N.Y. Acad. Sci. 15114.
Marks, P. A., and Gross, R. T. (1959). Erythrocyte glucose-6-phosphate dehydrogenase deficiency: Evidence of differences between Negroes and Caucasians with respect to this genetically determined trait. J. Clin. Invest. 382253.
Nelson, H. D., Dobert, M., McDonald, G. C., McLaughlin, J., Marvin, B., and Moeller, P. W. (1974). Area Handbook for the United Republic of Cameroon U.S. Government Printing Office, Washington, D.C.
Rachmilewitz, E. A. (1974). Denaturation of the normal and abnormal hemoglobin molecule. Semin. Hematol. 11441.
Rachmilewitz, E. A., and White, J. M. (1973). Haemichrome formation during the in vitro oxidation of haemoglobin Köln. Nature New Biol. 251115.
Robinson, A. R., Robson, M., Harrison, A. P., and Zuelzer, W. W. (1957). A new technique for differentiation of hemoglobin. J. Lab. Clin. Med. 50745.
Rose, Z. B., and Liebowitz, J. (1970). Direct determination of 2,3-diphosphoglycerate. Anal. Biochem. 35177.
Yoshida, A. (1966). Glucose-6-phosphate dehydrogenase of human erythrocytes. I. Purification and characterization of normal (B +) enzyme. J. Biol. Chem. 2414966.
Yoshida, A., and Beutler, E. (1978). Human glucose-6-phosphate dehydrogenase variants: A supplimentary tabulation. Ann. Hum. Genet. 41347.
Yoshida, A., Beutler, E., and Motulsky, A. G. (1971). Human glucose-6-phosphate dehydrogenase variants. Bull. WHO 45243.
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This work was supported in part by National Institutes of Health Grant HL 16005. S. C. B. was an International Telephone and Telegraph International Fellow to Cameroon, was supported by Training Grant NIH-GM 07197, and is currently an Insurance Medical Scientist Scholar. This work is in partial fulfillment of the requirements of the degree of Doctor of Philosophy in Genetics by S. C. B.
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Bernstein, S.C., Bowman, J.E. & Noche, L.K. Genetic variation in Cameroon: Thermostability variants of hemoglobin and of glucose-6-phosphate dehydrogenase. Biochem Genet 18, 21–37 (1980). https://doi.org/10.1007/BF00504357
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DOI: https://doi.org/10.1007/BF00504357