Abstract
Fast screening method for polymorphisms in exon 9 of the catalase gene
Highlights
High concentrations of hydrogen peroxide are toxic for human cells and tissues but an increasing body of evidence indicates that its low concentrations function in intracellular signaling [1,2,3]
In this paper we examined the application of this screening method for detections of polymorphisms and mutations in this exon
For the standard SSCP analyses double stranded PCR products were denatured with formamide and separated in polyacrylamide gels
Summary
High concentrations of hydrogen peroxide are toxic for human cells and tissues but an increasing body of evidence indicates that its low concentrations function in intracellular signaling [1,2,3]. The enzyme catalase (EC 1.11.1.6, CAT Gene ID: 847, NM_001752.3, NP_001743.1)[4] is the main regulator of hydrogen peroxide metabolism, especially in erythrocytes [5]. It decomposes hydrogen peroxide into oxygen and water in a concentration dependent manner. One silent substitution in exon 9 (rs:769217, c.1058C>T, p.Asp389Asp) was suggested to vitiligo susceptibility[12]. These reports indicate the increased frequency of catalase gene polymorphisms/ mutations in exon 9
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