{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T12:46:24Z","timestamp":1773665184542,"version":"3.50.1"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Gilbert\u2019s syndrome is a common metabolic dysfunction characterized by elevated levels of unconjugated bilirubin in the bloodstream. This condition is usually caused by additional (TA) insertions in a promoter region of the uridine diphosphate glucuronosyltransferase 1A1 (<jats:italic>UGT1A1<\/jats:italic>) gene, which instead of the sequence \u0410(T\u0410)<jats:sub>6<\/jats:sub>T\u0410\u0410 contains \u0410(T\u0410)<jats:sub>7<\/jats:sub>T\u0410\u0410. While the condition itself is benign, it presents elevated risk for patients treated with irinotecan, a common chemotherapy drug.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> The technique is based on hybridization analysis of a pre-amplified segment of the <jats:italic>UGT1A1<\/jats:italic> gene promoter performed on a microarray. Specific probes containing locked nucleic acids (LNA) were designed and immobilized on the microarray to provide accurate identification.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> A microarray has been developed to identify both common and rare variants of <jats:italic>UGT1A1<\/jats:italic>(TA)n polymorphisms. In total, 108 individuals were genotyped. Out of these, 47 (43.5%) had homozygous wild-type genotypes (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub>; 41(38%) were heterozygotes (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub>; and 18 (16.7%) \u2013 homozygotes (TA)<jats:sub>7<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub>. In two cases (1.8%), rare genotypes (TA)<jats:sub>5<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub>and (TA)<jats:sub>5<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub>were found. The results were in full agreement with the sequencing. In addition, synthetic fragments corresponding to all human allelic variants [(TA)<jats:sub>5<\/jats:sub>, (TA)<jats:sub>6<\/jats:sub>, (TA)<jats:sub>7<\/jats:sub>, (TA)<jats:sub>8<\/jats:sub>] were successfully tested.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> The developed microarray-based approach for identification of polymorphic variants of the <jats:italic>UGT1A1<\/jats:italic> gene is a promising and reliable diagnostic tool that can be successfully implemented in clinical practice.<\/jats:p>","DOI":"10.1515\/cclm-2012-0656","type":"journal-article","created":{"date-parts":[[2012,12,14]],"date-time":"2012-12-14T22:02:42Z","timestamp":1355522562000},"page":"1177-1184","source":"Crossref","is-referenced-by-count":8,"title":["Microarray with LNA-probes for genotyping of polymorphic variants of Gilbert\u2019s syndrome gene <i>UGT1A1<\/i>(TA)n"],"prefix":"10.1515","volume":"51","author":[{"given":"Eugeny E.","family":"Fesenko","sequence":"first","affiliation":[{"name":"Engelhardt Institute of Molecular Biology RAS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rustam N.","family":"Heydarov","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology RAS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia V.","family":"Stepanova","sequence":"additional","affiliation":[{"name":"Blokhin Cancer Research Centre RAMS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael E.","family":"Abramov","sequence":"additional","affiliation":[{"name":"Blokhin Cancer Research Centre RAMS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander V.","family":"Chudinov","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology RAS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander S.","family":"Zasedatelev","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology RAS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir M.","family":"Mikhailovich","sequence":"additional","affiliation":[{"name":"Engelhardt Institute of Molecular Biology RAS , Moscow , Russian Federation"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2012,12,15]]},"reference":[{"key":"2021120914250290429_j_cclm-2012-0656_ref_001","doi-asserted-by":"crossref","unstructured":"Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. 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