Polymorphism of Alpha-1-Antitrypsin (Pi) in the Swiss Population Determined by Isoelectric Focusing with an Immobilized pH Gradient
作者:
Walter Bär,
Adelgunde Kratzer,
期刊:
Human Heredity
(Karger Available online 1988)
卷期:
Volume 38,
issue 2
页码: 106-110
ISSN:0001-5652
年代: 1988
DOI:10.1159/000153767
出版商: S. Karger AG
关键词: α1-Antitrypsin;Pi;Immobilized pH gradient;Switzerland
数据来源: Karger
摘要:
The distribution of the phenotypes of alpha-1-antitrypsin (Pi) was investigated in a Swiss population sample of 1,148 unrelated individuals using isoelectric focusing with a immobilized pH gradient. A short focusing period of only 2 h using highvoltage is an additional asset of this modified method. All common as well as the rarer phenotypes were reliably detected. However, detection of Pi M4 required a narrower pH range as chosen for routine work. The allele frequencies found were: PiM1: 0.7121; PiM2: 0.1381; PiM3: 0.0976; Pis: 0.0383; Piz: 0.0113; PiVar(I, N, V.Vdon): 0.0026.
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