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人红细胞磷酸葡萄糖变位酶(PGM1)的等电聚焦:瑞士人群中的表型分布 - 罕见表型

Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the Swiss population - rare phenotypes.

作者信息

Scherz R, Pflugshaupt R, Bütler R

出版信息

Hum Hered. 1981;31(3):187-90. doi: 10.1159/000153204.

Abstract

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.

摘要

通过在pH值4至8范围内的聚丙烯酰胺凝胶上进行等电聚焦,测定了501份瑞士献血者样本中PGM1表型的基因频率。结果与根据哈迪-温伯格定律预期的分布高度一致。基因频率分别为:PGM1a1 = 0.6278,PGM1a2 = 0.1936,PGM1a3 = 0.1297,PGM1a4 = 0.0489。与白种人群的其他数据比较,未发现显著差异。测定了常见和罕见基因产物的等电点。讨论了该方法在常规亲子鉴定中的应用。

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