通过过氧化氢酶基因Hinf1多态性进一步表征匈牙利过氧化氢血症。

Enzyme & protein Pub Date : 1993-01-01 DOI:10.1159/000468671
L Góth, B N Alizadeh, H H Sussman
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引用次数: 3

摘要

报道了匈牙利正常过氧化氢血症个体和非过氧化氢血症患者过氧化氢酶基因的Hinf1相关限制性内切长度多态性模式。2.4 kb的pCAT 10探针显示了9个条带(2.1、1.5、1.2、1.1、0.9、0.8、0.6、0.5和0.4 kb),其中9个条带为对照。同样的模式在匈牙利阿卡塔拉萨患者中被检测到。对匈牙利无过氧化氢血症患者及其亲属在Hinf1多态性侧区-21位的A - T突变进行检测,未发现无过氧化氢血症与正过氧化氢酶基因之间存在差异。
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Further characterization of Hungarian acatalasemia by Hinf1 polymorphism of catalase gene.

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.

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