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Minucci A.,University Hospital Agemelli | Concolino P.,University Hospital Agemelli | Giardina B.,University Hospital Agemelli | Zuppi C.,University Hospital Agemelli | Capoluongo E.,University Hospital Agemelli
Clinica Chimica Acta | Year: 2010

Background: 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 (UGT1A1*28 allele). In addition, homozygous subjects for UGT1A1*28 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. Methods: 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. Results: Since the TA insertion modifies the derivative melting curve shape and the melting temperature (Tm), all possible genotypes for the 6 and 7 repeat alleles were successfully identified. Conclusions: HRM analysis for the UGT1A1 (TA)n genotyping is a simple, rapid, sensitive and low cost method, very useful in diagnostics. Crown Copyright © 2009. Source


Minucci A.,Institute of Biochemistry and Clinical Biochemistry | De Luca D.,University Hospital Agemelli | Torti E.,Institute of Biochemistry and Clinical Biochemistry | Concolino P.,Institute of Biochemistry and Clinical Biochemistry | And 4 more authors.
Annals of Clinical Biochemistry | Year: 2011

Glucose-6-phosphate dehydrogenase (G6PD), an X-linked hereditary deficiency, is the most common of all clinically significant enzyme defects. While many drugs are responsible for haemolytic anaemia in G6PD-deficient patients, acetaminophen's imputability is still under debate, although an overdose of this drug can provoke acute haemolytic events. We report a case of a Philipino child carrying the G6PD-Vanua Lava mutation with acute haemolytic crisis related to infection in progress and acetaminophen's administration. Fever and concomitant infection, through an increment of erythrocyte glutathione depletion, sensitized the infant to the haemolytic event. In this condition, acetaminophen (or paracetamol [PCM]) was capable of inducing a haemolytic crisis in our G6PD-deficient patient although administered under standard conditions. PCM seems to have induced the haemolytic event, probably by the alteration of its catabolism due to dehydration and fever. The enzymatic G6PD instability associated to the presence of the G6PD-Vanua Lava mutation could have led to an increment of red blood cells' sensitivity to lysis; hence, it is possible that PCM toxicity may also be due to the presence of this particular mutation. Finally, we propose a new biochemical classification of this G6PD variant. Source

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