UGT1A1 gene mutation as a marker indicating there is a high risk of Gilbert's syndrome: theoretical and applied aspects

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Gilbert's syndrome is a widely spread multi-factor pathology which is to a great extent genetically determined. Its basic etiological factor is lower activity of a liver enzyme, UDP-glucuronosyltransferase A1, caused by mutations in UGT1A1 gene. Functional disorders in the liver cause dyspepsia and concurrent acute and chronic diseases in the digestive system. The research goal was to substantiate the necessity and possibility to conduct mass examinations of population with molecular and genetic analysis of UGT1A1 gene in order to reveal Gilbert's syndrome. The authors performed molecular and genetic examination of UGT1A1 gene rs8175347 marker in 132 people living in Kemerovo region (population sampling) as well as in 71 patients who were supposed to have Gilbert's syndrome (clinical sampling). Frequency of *28/*28 mutant genotype of UGT1A1 gene associated with Gilbert's syndrome amounted to 13.6 % in the population sampling and it is quite consistent with previously published data...


Ugt1a1, rs8175347, gilbert's syndrome, udp-glucuronosyltransferase а1, mutations in a gene, genotype, molecular and genetic examination, genetic diagnostics

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IDR: 142220674   |   DOI: 10.21668/health.risk/2019.2.14

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