Genetic Studies of the Macushi and Wapishana Indians I
Hum. Genet. 36, 81--107 (1977) © by Springer-Verlag 1977 Genetic Studies of the Macushi and Wapishana Indians I. Rare Genetic Variants and a "Private Polymorphism" of Esterase A James V. Neel ~, Robert J. Tanis 1*, Ernest C. Migliazzal **, Richard S. Spielman 1***, Francisco Salzano 2, William J. Oliver 3, Marianne Morrow ~, and Sally Bachofer ~ Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48 109, USA 2Departamento de Genetica, Universidade de Rio Grande do Sul, Caixa Postal 1953, Porto Alegre, R.G.S., Brasil 3Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan 48 109, USA Summary. Blood samples from 509 Macushi and 623 Wapishana Amerindians of Northern Brazil and Southern Guyana have been analyzed with reference to the occurrence of rare variants and genetic polymorphisms of the following 25 systems: (i) Erythrocyte enzymes: acid phosphatase-1, adenosine de- aminase, adenylate kinase-k, carbonic anhydrase-1, carbonic anhydrase-2, esterase A1,2,3, esterase D, galactose-l-phosphate uridyltransferase, isocitrate dehydrogenase, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, peptidase A, peptidase B, phosphoglucomutase 1, phospho- glucomutase 2, phosphogluconate dehydrogenase, phosphohexoseisomerase, triosephosphate isomerase and (ii) Serum proteins: albumin, ceruloplasmin, haptoglobin, hemoglobin A, hemoglobin A 2 and transferrin. Fifteen different rare variants were detected, involving l l of these systems. In addition, a previously undescribed variant of ESA1,2,3 which achieves polymorphic proportions in both these tribes is described. Excluding this variant, the frequency of rare variants is 1.1/1000 in 12 510 determinations in the Macushi and 4.7/1000 in 15 396 determinations in the Wapishana.
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