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Updated: Jul 16, 2026
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
Rapid detection of R90H mutations in the human urate transporter 1 gene
Tetsuya Inazu1, Tetsuya Kawahara, Isao Ishikawa
1Department of Clinical Research, Saigata National Hospital, Joetsu, Niigata 949-3193, Japan. tinazu@saigata-nh.go.jp
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.
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