High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

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• 作者：Dana Gabrikova ; Jarmila Bernasovska ; Jitka Sokolova ; Blanka Stiburkova
• 关键词：Renal hypouricemia ; Acute kidney injury ; SLC22A12 ; URAT1
• 刊名：Urological Research
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：43
• 期：5
• 页码：441-445
• 全文大小：560 KB
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• 作者单位：Dana Gabrikova (1)
  Jarmila Bernasovska (1)
  Jitka Sokolova (2)
  Blanka Stiburkova (2) (3)
  
  1. Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Presov, Slovakia
  2. First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic
  3. Institute of Rheumatology, Na Slupi 4, 128 50 Prague 2, Prague, Czech Republic
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Urology and Andrology
  Nephrology
  Medical Biochemistry
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1434-0879

文摘

Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. Type 1 and 2 are caused by loss-of-function mutations in the SLC22A12 and SLC2A9 gene, respectively. A cohort of 881 randomly chosen ethnic Roma from two regions in Eastern Slovakia and two regions in the Czech Republic participated. Genomic DNA was isolated from buccal swabs and/or from blood samples. The c.1245_1253del and c.1400C>T genotypes were determined using polymerase chain reaction with allele-specific primers in a multiplex arrangement and/or direct sequencing of exon 7 and 9. Allele frequencies and genotypes were tested for Hardy–Weinberg equilibrium using the Chi-square test. 25 subjects were heterozygous and three were homozygous for the c.1245_1253del, while 92 subjects were heterozygous and two were homozygous for the c.1400C>T. Moreover, two participants were compound heterozygotes. Frequencies of the c.1245_1253del and c.1400C>T variants were 1.87 and 5.56 %, respectively. Our finding confirms an uneven geographical and ethnic distribution of SLC22A12 mutant variants. We found that the c.1245_1253del and c.1400C>T variants were present in the Czech and Slovak Roma population at unexpectedly high frequencies. Renal hypouricemia should be kept in mind during differential diagnostic on Roma patients with low serum uric acid concentrations. Keywords Renal hypouricemia Acute kidney injury SLC22A12 URAT1