Genetic studies on southeastern Bantu of Mozambique. II. Serum groups, hemoglobins and red cell isozyme phenotypes.
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Rare PGM1 variants in Macushi and Wayampi Amerindian populations have been compared electrophoretically and by means of electrofocusing. They appear to be identical. The findings are discussed.
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Genetic linkage between the HL-A and Bf loci could be confirmed in 43 families with 168 offspring. In 4 families, 5 recombinants out of 82 informative meiotic divisions were observed (r = 6.1%). The localisation of the Bf marker system was studied in 3 families with crossovers between HL-A and MLC. From these data the following map order of human chromosome 6 can be proposed: HL-A (1st locus) -- HL-A (2nd locus)--MLC-Bf---PGM(3). The fact that important components of the classical and alternate pathway of complement activation are governed by genes closely linked with HL-A and MLC loci leads to the proposition to include the Bf system into the Major Histocompatibility Complex in man.
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Two Amerindian populations of French Guiana were investigated for plasma proteins and red-cell enzymes. In the Wayampi tribe, rare variants were identified in 4 systems. The corresponding alleles are designated AK1 3 Wayampi, PGM1 (4/10) Wayampi, PGM2 6 Wayampi, and TfD. In the Emerillon tribe, a variant allele of PGM2, designated PGM2 6 Emerillon, was identified. For three of the systems, PGM1, PGM2, Tf, similar isozymes have been described in other Amerindian populations. These findings suggest that the corresponding alleles may have the same origin.
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A new variant of the PGMa1 erythrocyte enzyme system not identical with the known variants of the system has been detected in the hemolyzed red blood cells of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by two bands, a strong and slow one more cathodically located than the a3 band and a weak one in the position of the a2 band. Using agarose thin layer or acetate foil electrophoresis the variant is represented only by a minimal cathodic broadening of the PGM1 1 band and therefore it is easily overlooked. Investigation of the propositus' family shows that the variant occurs combined with the common alleles PGMa1(1), PGMa1(2), and PGMa1(3) and that it has an autosomal dominant inheritance. Obviously the variant has a very low frequency.
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'PGM1 subtyping' can be clearly demonstrated by horizontal electrophoresis in acid starch gel. Because of the different cathodal mobilities of PGM1-gene products, the allelic superscripts for PGM1 were designated as 1F, 1S, and 2F, 2S, respectively. Gene frequencies of a population sample from Southwestern Germany are presented. They fit in well with other, previously published data on this matter.