Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis

Clinica Chimica Acta; International Journal of Clinical Chemistry
Angelo MinucciEttore Capoluongo

Abstract

The basis of Gilbert's syndrome is a 70% reduction in bilirubin glucuronidation which, in the Caucasian population, is the result of a homozygous TA insertion into the promoter region of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene (UGT1A128 allele). In addition, homozygous subjects for UGT1A128 genotype may suffer from severe irinotecan toxicity or jaundice during treatment with the protease inhibitor atazanavir. For these reasons it is very important to perform a correct molecular diagnosis. In this study, we describe for the first time a new high resolution melting (HRM) analysis for a rapid UGT1A1 (TA)(n) genotyping. We screened the TA number repetitions of the TATA-box promoter region of the UGT1A1 gene in 30 patients attending the Gemelli Hospital. In order to evaluate the reliability of this technique, we compared the results obtained by HRM and sequencing. Since the TA insertion modifies the derivative melting curve shape and the melting temperature (T(m)), all possible genotypes for the 6 and 7 repeat alleles were successfully identified. HRM analysis for the UGT1A1 (TA)(n) genotyping is a simple, rapid, sensitive and low cost method, very useful in diagnostics.

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Citations

May 3, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Vid MlakarBarbara Ostanek
Jan 11, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Angelo MinucciEttore Capoluongo
Dec 4, 2012·Clinica Chimica Acta; International Journal of Clinical Chemistry·Angelo MinucciEttore Capoluongo
Dec 8, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Barbara OstanekBorut Bratanič
Jul 6, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Vincent ThomasPhilippe Joly
Dec 18, 2012·Clinical Chemistry and Laboratory Medicine : CCLM·Eugeny E FesenkoVladimir M Mikhailovich
Jun 11, 2020·World Journal of Clinical Cases·Ling-Ling KangHou-De Zhang
Sep 26, 2020·Molecular Biology Reports·Giulia CanuAngelo Minucci
Jun 6, 2021·Molecular Biology Reports·Valentina DapràMassimiliano Bergallo

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