The genetic diagnostics of mutations UGT1A1 in practice of modern medicine.

Abstract

The detection of mutations of the gene of UDF-glucuronyltransferase A1 (UGT1A1) has an important practical value. The carriers of mutant genotypes, mainly *28/*28, are characterized by a reduced function of glucuronidation and excretion of a number of endogenous and exogenous toxins. A precise association of particular forms of benign hyperbilirubinemia (especially Gilbert's syndrome) with mutations in promoter and exonic areas of UGT1A1 is established. On the other hand, carriers of various genotypes of UGT1A1 differ significantly in metabolism characteristics of a number of common medications (irinotecan, belinostat, etc.), that requires a dosage of these medications considering individual genetic status of patient. The analysis of modern technical solutions for genetic diagnostics of UGT1A1 mutations is carried out. The particular attention is paid to discussion of national developments for genetic typing of UGT1A1. The conclusion is made concerning small assortment of corresponding test-systems of Russian production. In some cases, there is no data about their main analytical and diagnostic characteristics. When developing design of diagnosticums, various methodological approaches are applied that allow to potential consumers to choose depending on financial technical capabilities of laboratory, amount of implemented analyses, qualification of personnel. To support UGT1A1 research instrumentally, laboratory equipment of national manufacturers can be sufficient that would permit to organize entire analytical cycle on the basis of import substitution principle.