A rare allele of phosphoglucomutase (PGM) in a Jewish family of Moroccan-Turkish origin.
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The PGM1 and PGM3 phenotypes were examined in extracts of chorionic tissue from 97 spontaneous and 266 induced abortions. Contamination by maternal tissue or blood cells was shown to be insignificant. A positive association was found between the PGM11 and PGM13 genes. No significant differences in phenotype distributions were found between the population of spontaneously aborted fetuses and the normal fetal or adult populations. Hence it was concluded that there is no evidence so far for prenatal selection operating in the PGM1 and PGM3 polymorphisms.
Genetic variants of PGM1, AK and ADA were studied in a sample of unrelated individuals from the Polish population. The gene frequencies observed are: PGM1/1: 0.715, AK1: 0.962 AND ADA1: 0.940.
Phenotype distributions and allele frequencies of phosphoglucomatase loci PGM1, PGM2, and PGM3 were determined for four Canadian populations: SWO-Random, a randomly chosen group from southwestern Ontario; SWO-Caucasian, selected from SWO; Indian and Eskimo from the James and Hudson area. In the two population samples from southwestern Ontario, allele frequencies were similar to those of European populations but there was a marked excess of homozygotes at the PGM1 locus. In Indians the PGM1 1 allele had a frequency of 0.922, that of the PGM1 3 allele was 0.765.The allele frequencies for the Eskimo population were 0.848 for PGM1 1 AND 0.884 FOR PGM1 3. One rare phenotype was found at each of the PGM1 AND PGM2 loci.
Two independent mouse-human somatic cell hybrid clones contained different, de novo chromosome rearrangements involving the short arm of human chromosome 1. One hybrid clone contained a translocation between human chromosomes 1 and 7; the other clone contained a rearrangement product between human chromosomes 1 and 14. Analysis of these clones for expression of genes previously assigned to chromosome 7 and to the short arm of chromosome 1 provided evidence for localization of PGM--1 in segment 1p22.1 leads to 1p31.1, AK--2, ENO--1 and UMPK in region 1pter leads to 1p31.1, and GUS in region 7 pter leads to 7q22. The results have been used to examine the relationship between cytologic and genetic map distances on the short arm of chromosome 1.
Leukocyte lysates obtained from blood specimens of individuals from Central and Western Pyrenean groups (Barèges and Basques) and from the population of Toulouse city have been typed for PGMa1 isozymes using isoelectric focusing (pH range: 3-9.5) in polyacrylamide gels. The determination of usual PGM1 phenotypes was simultaneously performed on red cells by starch gel electrophoresis. Significant differences were found between the three communities. In Barèges samples only 6 of the 10 phenotypes known at PGMa1 locus have been observed. In the same group, 36 mating types were studied in distinct families. The segregation of the phenotypes in an agreement with the codominant inheritance of the alleles. In Basques the gene frequencies showed intermediate values between Toulouse and Barèges. PGMa2 reaches a higher frequency in the latter community (0.306). In the Toulouse population sample the results are comparable with those previously published in western Europeans. The present data provide additional information on the usefulness of the new PGM system detected by isoelectrofocusing in human genetics.
Gene frequencies of PGM1 phenotypes as obtained by isoelectric focusing on polyacrylamide gel in the pH range from 4 to 8 were determined in 501 samples of Swiss blood donors. Results were in good agreement with the expected distribution according to the Hardy-Weinberg law. Frequencies were PGM1a1 = 0.6278, PGM1a2 = 0.1936, PGM1a3 = 0.1297, PGM1a4 = 0.0489. Comparison with other data of the white population showed no significant differences. Isoelectric points of regular and rare gene products were determined. Application of the method in routine paternity testing is discussed.
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