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
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu časopisecké články, multicentrická studie, práce podpořená grantem
PubMed
26033041
DOI
10.1007/s00240-015-0790-4
PII: 10.1007/s00240-015-0790-4
Knihovny.cz E-zdroje
- Klíčová slova
- Acute kidney injury, Renal hypouricemia, SLC22A12, URAT1,
- MeSH
- genetické testování metody MeSH
- lidé MeSH
- močové kameny genetika MeSH
- polymerázová řetězová reakce metody MeSH
- přenašeče organických aniontů genetika MeSH
- proteiny přenášející organické kationty genetika MeSH
- retrospektivní studie MeSH
- Romové genetika MeSH
- vrozené poruchy tubulárního transportu genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Slovenská republika MeSH
- Názvy látek
- přenašeče organických aniontů MeSH
- proteiny přenášející organické kationty MeSH
- SLC22A12 protein, human MeSH Prohlížeč
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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Clin Chim Acta. 2013 Jan 16;415:330-3 PubMed
Klin Wochenschr. 1989 Mar 1;67(5):308-12 PubMed
Clin Genet. 2008 Sep;74(3):243-51 PubMed
Eur J Hum Genet. 2013 Oct;21(10):1067-73 PubMed
Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6 PubMed
Am J Nephrol. 2010;32(3):279-86 PubMed
Kidney Int. 2004 Sep;66(3):935-44 PubMed
Nature. 2002 May 23;417(6887):447-52 PubMed
Am J Med Sci. 2015 Oct;350(4):268-71 PubMed
Nephrol Ther. 2009 Nov;5(6):568-71 PubMed
PLoS One. 2011;6(12):e28641 PubMed
BMC Med Genet. 2011 Mar 02;12:33 PubMed
Bratisl Lek Listy. 1987 Feb;87(2):168-75 PubMed
Pediatr Nephrol. 2012 Aug;27(8):1411-5 PubMed
Am J Med. 2014 Jan;127(1):e3-4 PubMed
Am J Hum Genet. 2004 Oct;75(4):596-609 PubMed
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