Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction

► Hypouricemia is a disorder that serum urate level is less than 2.0 mg/dl. ► Urate transporter 1, encoded by SLC22A12, is a membrane protein. ► Idiopathic renal hypouricemia have defects in SLC22A12. ► We established a touchdown allele-specific real-time polymerase chain reaction. ► We detected W258X and R90H mutations in SLC22A12, respectively.