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
Language English Country Germany Media print-electronic
Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
PubMed
26033041
DOI
10.1007/s00240-015-0790-4
PII: 10.1007/s00240-015-0790-4
Knihovny.cz E-resources
- Keywords
- Acute kidney injury, Renal hypouricemia, SLC22A12, URAT1,
- MeSH
- Genetic Testing methods MeSH
- Humans MeSH
- Urinary Calculi genetics MeSH
- Polymerase Chain Reaction methods MeSH
- Organic Anion Transporters genetics MeSH
- Organic Cation Transport Proteins genetics MeSH
- Retrospective Studies MeSH
- Roma genetics MeSH
- Renal Tubular Transport, Inborn Errors genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Slovakia MeSH
- Names of Substances
- Organic Anion Transporters MeSH
- Organic Cation Transport Proteins MeSH
- SLC22A12 protein, human MeSH Browser
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.
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