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Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene.

作者信息

Góth L, Alizadeh B N, Sussman H H

机构信息

Department of Pathology, Stanford University, Calif.

出版信息

Enzyme Protein. 1993;47(3):156-9. doi: 10.1159/000468671.

Abstract

An Hinf1 associated restriction length polymorphism pattern is reported for the catalase gene of Hungarian normocatalasemic individuals and acatalasemic patients. The 2.4-kb pCAT 10 probe revealed 9 bands (2.1, 1.5, 1.2, 1.1, 0.9, 0.8, 0.6, 0.5 and 0.4 kb) with 9 distinct patterns for the controls. The same patterns were detected for the Hungarian acatalasemic patients. The examination of the A to T mutation of the Hungarian acatalasemic patients and their relatives at position -21 in the flanking region with Hinf1 polymorphism could not reveal any difference between the acatalasemic and the normocatalasemic catalase gene.

摘要

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