Góth L, Vitai M
Department of Clinical Chemistry, Medical School, University of Debrecen, Hungary.
Electrophoresis. 1997 Jun;18(7):1105-8. doi: 10.1002/elps.1150180714.
The amplified fragment length polymorphism of Hinf1 on the promoter region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients yielded three different patterns with five bands in total. The sequence analyses revealed A-to-T, C-to-A, and C-to-T mutations at positions -21, -20, and -18 upstream of the translational initiation site. The -21 A-to-T mutations were more frequent in acatalasemic and hypocatalasemic patients (36/2) than in controls (18/14). This mutation had been detected in Japanese acatalasemic patients while the other two are novel mutations. Two extra bands in the Hinf1 pattern are due to star-like activity that cleaved a G/ATTT sequence at position -4 to 0 upstream of the initiation site.
匈牙利无过氧化氢酶血症和低过氧化氢酶血症患者过氧化氢酶基因启动子区域Hinf1的扩增片段长度多态性产生了三种不同模式，总共五条带。序列分析显示，在翻译起始位点上游-21、-20和-18位存在A到T、C到A和C到T突变。-21 A到T突变在无过氧化氢酶血症和低过氧化氢酶血症患者中（36/2）比在对照组中（18/14）更常见。这种突变在日本无过氧化氢酶血症患者中已被检测到，而另外两种是新突变。Hinf1模式中的两条额外条带是由于星状活性，其在起始位点上游-4到0位切割G/ATTT序列。
