Rapid detection of R90H mutations in the human urate transporter 1 gene.
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.
Inazu
Tetsuya
T
Department of Clinical Research, Saigata National Hospital, Joetsu, Niigata 949-3193, Japan. tinazu@saigata-nh.go.jp
Kawahara
Tetsuya
T
Ishikawa
Isao
I
D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015203:Reproducibility of Results; D014527:Uric Acid / Q000097:blood
D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid