Academic Journal
Rapid detection of R90H mutations in the human urate transporter 1 gene
| العنوان: | Rapid detection of R90H mutations in the human urate transporter 1 gene |
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| المؤلفون: | Inazu, Tetsuya, Kawahara, Tetsuya, Ishikawa, Isao |
| المصدر: | Annals of Clinical Biochemistry: International Journal of Laboratory Medicine ; volume 44, issue 2, page 189-191 ; ISSN 0004-5632 1758-1001 |
| بيانات النشر: | SAGE Publications |
| سنة النشر: | 2007 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1258/000456307780118028 |
| الاتاحة: | https://doi.org/10.1258/000456307780118028 https://journals.sagepub.com/doi/pdf/10.1258/000456307780118028 |
| Rights: | https://journals.sagepub.com/page/policies/text-and-data-mining-license |
| رقم الانضمام: | edsbas.FFC9EBB6 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1258/000456307780118028 |
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