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[人类红细胞酯酶D的多态性。德国北部(石勒苏益格-荷尔斯泰因州)的表型分布和基因频率;一个Es D 4家族的描述(作者译)]

[The polymorphism of human erythrocytic esterase D. Phenotype distribution and gene frequency in Northern Germany (Schleswig-Holstein); description of an Es D 4 family (author's transl)].

作者信息

Grüner O, Simeoni E

出版信息

Z Rechtsmed. 1978 Aug 28;81(4):261-7. doi: 10.1007/BF02096432.

Abstract

A good correlation between the actual phenotype distribution of esterase D and the expected distribution was found in the analysis of a random sample of 2028 unrelated persons, 54 umbilical cord blood samples, 406 mother/child comparisons, 24 family investigations, one fraternal and 32 identical twin investigations. The assume gene frequencies in Northern Germany were calculated for Es D1 =0.8935 and Es D2 =0.1065 for an aggregate sampling. Gene defects were not observed, and one family exhibited the variant Es D4 in the father (Es D 4--1) and son (Es D 4--2). Likewise, these phenotypes distinctly distinguish themselves by electrofocusing from the phenotypes Es D 1, Es D 2--1, and Es D 2.

摘要

在对2028名无亲属关系的个体、54份脐带血样本、406对母婴对照、24个家系调查、1对异卵双胞胎和32对同卵双胞胎的随机样本分析中,发现酯酶D的实际表型分布与预期分布之间存在良好的相关性。在德国北部,对总计样本计算出的假定基因频率为Es D1 =0.8935和Es D2 =0.1065。未观察到基因缺陷,有一个家系中,父亲(Es D 4--1)和儿子(Es D 4--2)表现出变异型Es D4。同样,通过电聚焦,这些表型与Es D 1、Es D 2--1和Es D 2表型明显区分开来。

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