Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations

38 genetically determined marker systems were examined in blood samples obtained from a relatively isolated population of Eskimos living in the Eastern Canadian Arctic. 2,3-DPGM, sGOT, sGPT, PGM1; 6PGD, AcP, E2 cholinesterase, haptoglobin, Gm, Inv, and HL-A were found to exist in polymorphic form, while no variation of the remaining 27 markers was detected in the population. The 2,3-DPGM 2–1 phenotype, which has hitherto been considered to be a rare phenotype, occurred in 3.6% of the individuals studied. One previously undescribed rare variant sGPT 5–1 was detected. Comparisons of the data for circumpolar populations indicate that the PGM21 allele frequencies form a gradient of increasing magnitude from west to east in Arctic populations; a suggestion of a decreasing gradient of red cell acid phosphatase Paallele frequencies was found from west to east in these populations. Approximately 6% of the genes in the Igloolik gene pool appeared to be Caucasoid. The incidence of polymorphisms and the average degree of heterozygosity in this relatively isolated population were not found to differ statistically from the corresponding estimates for a large random mating population with little inbreeding.