PMID- 23148994
OWN - NLM
STAT- MEDLINE
DCOM- 20130531
LR  - 20221207
IS  - 1873-3492 (Electronic)
IS  - 0009-8981 (Linking)
VI  - 415
DP  - 2013 Jan 16
TI  - Simple and rapid detection method for the mutations in SLC22A12 that cause 
      hypouricemia by allele-specific real-time polymerase chain reaction.
PG  - 330-3
LID - S0009-8981(12)00513-X [pii]
LID - 10.1016/j.cca.2012.10.046 [doi]
AB  - BACKGROUND: Hypouricemia is a disorder that serum urate level is less than 2.0 
      mg/dl, and relatively common in the Japanese population, where the main genetic 
      cause of hypouricemia is W258X and R90H mutations in human urate trasnsporter 
      1(SLC22A12). Small scale screening has relied on time-consuming traditional ways 
      like polymerase chain reaction-restriction fragment length polymorphism 
      (PCR-RFLP). Therefore, it is beneficial that we have an easy and rapid detection 
      method for these mutations. METHODS: In this report, we established a touchdown 
      allele-specific real-time polymerase chain reaction (ASPCR) assay for detecting 
      W258X and R90H mutations in SLC22A12, respectively. RESULTS: Quantifiable 
      discrimination was successfully achieved by ∆Ct value. Furthermore, we conducted 
      W258X and R90H screening against 120 control genome sets, whereby frequency was 
      2.92% for W258X, and not detected for R90H, respectively. CONCLUSIONS: The two 
      mutations, W258X and R90H in SLC22A12 were successfully genotyped by an easy and 
      rapid ASPCR assay.
CI  - Copyright (c) 2012 Elsevier B.V. All rights reserved.
FAU - Takagi, Shota
AU  - Takagi S
AD  - Department of Pharmacy, College of Pharmaceutical Sciences, Ritsumeikan 
      University, Kusatsu, Shiga 525-8577, Japan.
FAU - Omae, Risa
AU  - Omae R
FAU - Makanga, Juliet O
AU  - Makanga JO
FAU - Kawahara, Tetsuya
AU  - Kawahara T
FAU - Inazu, Tetsuya
AU  - Inazu T
LA  - eng
PT  - Journal Article
DEP - 20121110
PL  - Netherlands
TA  - Clin Chim Acta
JT  - Clinica chimica acta; international journal of clinical chemistry
JID - 1302422
RN  - 0 (DNA Primers)
RN  - 0 (Organic Anion Transporters)
RN  - 0 (Organic Cation Transport Proteins)
RN  - 0 (SLC22A12 protein, human)
RN  - 268B43MJ25 (Uric Acid)
RN  - Renal hypouricemia
SB  - IM
MH  - Alleles
MH  - Asian People
MH  - Biological Transport
MH  - DNA Primers
MH  - Gene Frequency
MH  - Genotype
MH  - *Genotyping Techniques
MH  - Humans
MH  - *Mutation
MH  - Organic Anion Transporters/*genetics
MH  - Organic Cation Transport Proteins/*genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Real-Time Polymerase Chain Reaction/*methods
MH  - Renal Tubular Transport, Inborn Errors/*diagnosis/*genetics
MH  - Time Factors
MH  - Uric Acid/blood
MH  - Urinary Calculi/*diagnosis/*genetics
EDAT- 2012/11/15 06:00
MHDA- 2013/06/01 06:00
CRDT- 2012/11/15 06:00
PHST- 2012/10/25 00:00 [received]
PHST- 2012/10/26 00:00 [accepted]
PHST- 2012/11/15 06:00 [entrez]
PHST- 2012/11/15 06:00 [pubmed]
PHST- 2013/06/01 06:00 [medline]
AID - S0009-8981(12)00513-X [pii]
AID - 10.1016/j.cca.2012.10.046 [doi]
PST - ppublish
SO  - Clin Chim Acta. 2013 Jan 16;415:330-3. doi: 10.1016/j.cca.2012.10.046. Epub 2012 
      Nov 10.