通过变性梯度凝胶电泳检测常见的α-1-抗胰蛋白酶变体。

Detection of the common alpha-1-antitrypsin variants by denaturing gradient gel electrophoresis.

作者信息

Johnson P H, Cadiou H, Hopkinson D A

机构信息

MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London.

出版信息

Ann Hum Genet. 1991 Jul;55(3):183-98. doi: 10.1111/j.1469-1809.1991.tb00413.x.

DOI:10.1111/j.1469-1809.1991.tb00413.x

PMID:1684891

Abstract

The well-characterized and highly polymorphic human alpha-1-antitrypsin (AAT) gene was used as a test locus to evaluate the general applicability of denaturing gradient gel electrophoresis (DGGE) for the detection of single base change polymorphisms. We report the resolution of all the major alleles, M1Ala, M1Val, M2, M3, S and Z and the identification of substantial genetic polymorphism in intron 3-4 by this technique. DGGE was found to be a quick and efficient method for the screening of multiple samples for the presence of genetic variation.

摘要

特征明确且高度多态的人类α-1-抗胰蛋白酶（AAT）基因被用作一个测试位点，以评估变性梯度凝胶电泳（DGGE）在检测单碱基变化多态性方面的普遍适用性。我们报告了通过该技术分辨出所有主要等位基因，即M1Ala、M1Val、M2、M3、S和Z，以及鉴定出内含子3 - 4中存在大量遗传多态性。结果发现DGGE是一种快速有效的方法，可用于筛查多个样本中是否存在遗传变异。