Background: Hypouricaemia is a relatively common disorder in the general population. Since the discovery of the human urate transporter 1 (hURAT1) gene, the number of patients diagnosed with renal hypouricaemia caused by hURAT1 gene mutation(s) has increased. A rapid method for detecting such a mutation(s) for diagnostic aid is described herein.
Methods: A rapid method for detecting G269A (R90H) mutations by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was developed.
Results: The patient had compound heterozygous mutations in the hURAT1 gene (R90H and W258X), but showed no clinical manifestations such as urolithiasis or exercise-induced acute renal failure. The G269A (R90H) mutation was detected by PCR-RFLP using the Notl restriction enzyme.
Conclusions: PCR-RFLP is useful for detecting G269A (R90H) mutations in the hURAT1 gene.
