Góth L
Department of Clinical Chemistry, University Medical School, Debrecen, Hungary.
Clin Chim Acta. 1998 Mar 9;271(1):73-8. doi: 10.1016/s0009-8981(97)00243-x.
The 5' uncoding region (165 bp), exon 1 (63 bp) and part of intron 1 (20 bp) of the catalase gene was amplified by PCR in acatalasemic (2), hypocatalasemic (19) patients and healthy individuals (10). The single strand conformational polymorphism of PCR products showed a highly polymorphic pattern. This polymorphism was supported by nucleotide sequence analyses yielding eight mutations. They are A to T, C to A and C to T at positions -21, -20, -18 of the 5' flanking region, T to C at positions 4, 44, 49 of the non-coding region and C to T and C to A at positions 12, 27 of exon 1. Of these nucleotide substitutions, the fourth, fifth, seventh and eighth are novel mutations. The mutations 1, 3, 6, 8 were present at least at heterozygous level in all acatalasemics and hypocatalasemics. None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.
采用聚合酶链反应（PCR）对2例无过氧化氢酶血症患者、19例低过氧化氢酶血症患者和10名健康个体的过氧化氢酶基因5'非编码区（165bp）、外显子1（63bp）和部分内含子1（20bp）进行扩增。PCR产物的单链构象多态性呈现出高度多态性模式。核苷酸序列分析证实了这种多态性，共产生8个突变。它们分别是5'侧翼区第-21、-20、-18位的A突变为T、C突变为A和C突变为T，非编码区第4、44、49位的T突变为C，以及外显子1第12、27位的C突变为T和C突变为A。在这些核苷酸替换中，第四、第五、第七和第八个是新突变。突变1、3、6、8在所有无过氧化氢酶血症患者和低过氧化氢酶血症患者中至少以杂合子形式存在。这些突变均不可能是无过氧化氢酶血症的致病突变，因为在血液过氧化氢酶活性正常的健康受试者中也检测到了这些核苷酸替换。
