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

Article ID	Journal	Published Year	Pages	File Type
8313932	Clinica Chimica Acta	2013	4 Pages	PDF

Abstract

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

Keywords

PCR-Restriction Fragment Length Polymorphism ASPCR Genotyping urate transporter PCR-RFLP Hypouricemia polymerase chain reaction PCR

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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

Authors

Shota Takagi, Risa Omae, Juliet O. Makanga, Tetsuya Kawahara, Tetsuya Inazu,