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通过等电聚焦对α1-抗胰蛋白酶(Pi)表型进行分类。区分PiM表型的六个亚型。

Classification of alpha1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype.

作者信息

Genz T, Martin J P, Cleve H

出版信息

Hum Genet. 1977 Oct 14;38(3):325-32. doi: 10.1007/BF00402159.

Abstract

Pi phenotypes have been determined by isoelectrofocusing in a sample of 538 healthy individuals from Southern Germany. Further subdivision of the common PiM phenotype is described. A procedure for the delineation of six common subtypes is presented. It is assumed that the six subtypes are determined by three alleles which are provisionally called PiMa, PiMb, and PiMc. Their frequencies in this sample were 0.75, 0.06, and 0.15, respectively.

摘要

在来自德国南部的538名健康个体的样本中,通过等电聚焦法确定了Pi表型。描述了常见PiM表型的进一步细分。提出了一种划分六种常见亚型的方法。假定这六种亚型由三个等位基因决定,暂定为PiMa、PiMb和PiMc。它们在该样本中的频率分别为0.75、0.06和0.15。

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