Genotyping of a 50 bp insertion/deletion genetic variation at promoter region of the superoxide dismutase 1 (SOD1) using high resolution melting analysis

Functional polymorphism of a 50 bp insertion/deletion (Ins/Del) in the promoter region of the superoxide dismutase-1 gene (SOD1, OMIM: 147450) has been well described. The major aim of the current study is to set up a fast method for detection of this polymorphism based on high resolution melting (HRM) analysis. The genotypes showing quite different patterns for the raw fluorescence, normalized fluorescence, normalized fluorescence minus the Ins/Del genotype and the dF/dT versus T graphs of the melting curves at 84.5-86.5 degrees C. To evaluate the accuracy of this method with the conventional PCR method, the genotypes of 119 samples from Iranian Mandaean population were determined by both methods. There was 100% concordance between HRM analysis and usual PCR method. The frequency of the Del allele was estimated 0.084 (95% CI: 0.048-0.120) in Iranian Mandaean gene pool.