Summary
Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E1 and E2). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGDB and pa alleles; the existence of two rare PGM variants at the PGM2 locus, typical PGM 6Pyg2 (4.2%) and PGM 92 (0.2%); the high frequency of the pr allele (10.8%) and CA 2II (8.22%) and ESD2 genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GDA-(4%) and GdA+(16%), the common GdB+(79.2%)-,and the rare Gd+Ibadan Austin (0.7%). Cholinesterase typings disclosed the presence of the uncommon E f1 and E s1 genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.
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Beretta, M., Ranzani, G., Antonini, G., Negri, M., Siccardi, A., Santachiara-Benerecetti, A. S.: Genetic characterization of Twa Pygmies by the analysis of 15 erythrocytic mathers. Abstract. J. Ital. Soc. Hum. Genet. 1, 22 (1977)
Blake, N. M., Omoto, K.: Phosphoglucomutase types in the Asian-Pacific area. A critical review including new phenotypes. Ann. Hum. Genet. 38, 251–273 (1975)
Cavalli-Sforza, L. L., Zonta, L. A., Nuzzo, F., Bernini, L., Dejong, W. W. W., Meera Khan, P., Ray, A. K., Went, L. N. Siniscalco, M., Nijenhuis, L. E., Van Loghem, E., Modiano, G.: Studies on Babinga Pygmies: I. A pilot investigation of Babinga Pygmies in the Central African Republic. Am. J. Hum. Genet. 21, 252–274 (1969).
Dietz, A. A., Rubinstein, H. M., Lubrano T., Hodges, L. K.: Improved method for the differentiation of cholinesterase variants. Am. J. Hum. Genet. 24, 58–64 (1972)
Haldane, J. B. S.: Tests for sex-linked inheritance on population samples. Ann. Hum. Genet. 27, 107–111 (1963)
Harris, H., Hopkinson, D. A.: Handbook of enzyme electrophoresis in human genetics. Amsterdam: North-Holland 1976
Hiernaux, J.: Blood polymorphism frequencies in the Sara Majingay of Chad. Ann. Hum. Biol. 3, 127–140 (1976)
Hopkinson, D. A., Mestriner, M. A., Cortner, J., Harris, H.: Esterase D, a new human polymorphism. Ann. Hum. Genet. 37, 119–137 (1973)
Jaeger, G.: Etude hémotypologique d'une communauté centrafricaine, Cahiers Anthropol. Ecol. Hum. 2, 19–124 (1974)
Jenkins, T., Corfield, V.: The red cell acid phosphatase polymorphism in Southern Africa: population data and studies on the R, RA and RB phenotypes. Ann. Hum. Genet. 35, 379–391 (1972)
Jenkins, T., Harpending, H. C., Gordon, H., Keraan, M. M., Johnston, S.: Red cell enzyme polymorphism in the Khoisan peoples of Southern Africa. Am. J. Hum. Genet. 22, 513 532, (1971)
Kirk, R. L., McDermid, E. M., Blake, N. M., Wight, R. L., Yap, E. H., Simons, M. J.: The distribution of red cell enzyme and serum proteins groups in a population of Dani (Pit River, West Irian). Humangenetik 17, 345–350 (1973)
Lefevre-Witier, P., Vergnes, H.: Enzyme polymorphism of Ideles populations (Ahaggar, Algeria) and the Iwellemeden Kel Kummer Twaregs (Menaka, Mali). Hum. Hered. 27, 454–469 (1977)
Morrow, A. C., Motulsky, A. G.: Rapid screening method for the common atypical pseudocholinesterase variant. J. Lab. Clin. Med. 71, 350–356 (1968)
Motulsky, A. G., Yoshida, A.: Methods for the study of red cell glucose-6-phosphate dehydrogenase. In: Biochemical methods in red cell genetics. New York: Academic Press 1969
Mourant, A. E., Kopec, A. C., Domaniewska-Sobczak, K.: The distribution of the human blood groups and other polymorphisms. London: Oxford University Press 1976
Nurse, G. T., Botha, M. C., Jenkins, T.: Sero-genetic studies on the San of South West Africa. Hum. Hered. 27, 81–98 (1977)
Ojikutu, R. O., Nurse, G. T., Jenkins, T.: Red cell polymorphisms in the Yoruba. Hum. Hered. 27, 444–453 (1977)
Omoto, K., Aoki, K., Harada, S.: Polymorphism of esterase D in some population groups in Japan. Hum. Genet. 25, 378–381 (1975)
Santachiara-Benerecetti, S. A., Modiano, G.: Studies on African Pygmies. II. Red cell phosphoglucomutase studies in Babinga Pygmies: A common PGM2 variant allele. Am. J. Hum. Genet. 21, 315–321 (1969)
Scott, E. M., Weaver, D. D.: Electrophoresis in starch gel of human serum cholinesterase. Biochem. Med. 4, 349–352 (1970)
Spencer, N., Hopkinson, D. A., Harris, H.: Phosphoglucomutase polymorphism in man. Nature (Lond.) 204, 742–745 (1964)
Vergnes, H., Cabannes, R.: Polymorphism of erythrocyte and serum enzyme systems in the Gagu of the Ivory Coast. Ann. Hum. Biol. 3, 423–429 (1976)
Vergnes, H., Gourdin, D.: Further data on the distribution of some red cell enzyme variants in African population. Hum. Hered. 24, 463–471 (1974)
Vergnes, H., Gherardi, M., Jaeger, G., Benabadji, M.: Genetic variants of glucose-6-phosphate dehydrogenase in a Saharian and a Pygmy family. Hum. Hered. 29, 50–56 (1979)
Welch, S. G.: Red cell esterase D in Gambia. Humangenetik 21, 365–367 (1974)
Whittaker, M., Lowe, R. F.: The cholinesterase variants found in some African tribes living in Rhodesia. Hum. Hered. 26, 380–393 (1976)
Whittaker, M., Reys, L.: Plasma cholinesterase studies on South Eastern Bantu of Mozambique. Hum. Hered. 25, 296–301 (1975)
World Health Organization: Standardization procedures for the study of glucose-6-phosphate dehydrogenase. (Tech. rep. ser.). Geneva: WHO 1967
Yoshida, A., Beutler, E., Motulsky, A. G.: Human glucose-6-phosphate dehydrogenase variants. Bull. WHO 45, 243–253 (1971)
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Otherwise known as Bi Aka
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Vergnes, H., Sevin, A., Sevin, J. et al. Population genetic studies of the Aka Pygmies (Central Africa). Hum Genet 48, 343–355 (1979). https://doi.org/10.1007/BF00272835
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DOI: https://doi.org/10.1007/BF00272835