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人磷酸葡萄糖变位酶的等电聚焦:法国西南部三个群体样本中变异表型分布的数据。

Isoelectric focusing of human phosphoglucomutase: data on the distribution of variant phenotypes in three population sample from South West France.

作者信息

Vergnes H, Sevin J

出版信息

Hum Hered. 1981;31(3):156-60. doi: 10.1159/000153198.

Abstract

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.

摘要

已使用聚丙烯酰胺凝胶中的等电聚焦法(pH范围:3 - 9.5),对来自比利牛斯山脉中部和西部群体(巴雷热和巴斯克)个体以及图卢兹市人群的血液样本中的白细胞裂解物进行PGMa1同工酶分型。同时通过淀粉凝胶电泳对红细胞进行常规PGM1表型的测定。在这三个群体之间发现了显著差异。在巴雷热样本中,在PGMa1位点已知的10种表型中仅观察到6种。在同一群体中,对不同家族中的36种交配型进行了研究。这些表型的分离符合等位基因的共显性遗传。在巴斯克人中,基因频率显示出介于图卢兹和巴雷热之间的中间值。PGMa2在后者群体中频率更高(0.306)。在图卢兹人群样本中,结果与先前在西欧人中发表的结果相当。目前的数据为等电聚焦检测到的新PGM系统在人类遗传学中的实用性提供了更多信息。

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