{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:42:29Z","timestamp":1758818549813,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2012,2,14]]},"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Gilbert syndrome is an inherited disease characterised by mild unconjugated hyperbilirubinaemia caused by mutations in <jats:italic>UGT1A1<\/jats:italic> gene which lead to decreased activity of UDP-glucuronosyltransferase 1A1. The most frequent genetic defect is a homozygous TA dinucleotide insertion in the regulatory TATA box in the <jats:italic>UGT1A1<\/jats:italic> gene promoter.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>182 Polish healthy individuals and 256 patients with different types of hereditary haemolytic anaemias were examined for the A(TA)<jats:sub>n<\/jats:sub>TAA motif. PCR was performed using sense primer labelled by 6-Fam and capillary electrophoresis was carried out in an ABI 3730 DNA analyser. The frequency of the (TA)<jats:sub>7<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub> genotype in the control group was estimated at 18.13%, (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub> at 45.05% and (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub> at 36.26%. There was a statistically significant difference in the (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub> genotype distribution between healthy individuals and patients with glucose-6-phosphate dehydrogenase deficiency (p=0.041). Additionally, uncommon genotypes, (TA)<jats:sub>5<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub>, (TA)<jats:sub>5<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub> and (TA)<jats:sub>7<\/jats:sub>\/(TA)<jats:sub>8<\/jats:sub> of the promoter polymorphism, were discovered.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Genotyping of the <jats:italic>UGT1A1<\/jats:italic> gene showed distinct distribution of the common A(TA)<jats:sub>n<\/jats:sub>TAA polymorphism relative to other European populations. Because of a greater risk of hyperbilirubinaemia due to hereditary haemolytic anaemia, the diagnosis of Gilbert syndrome in this group of patients is very important.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jclinpath-2011-200580","type":"journal-article","created":{"date-parts":[[2012,5,3]],"date-time":"2012-05-03T23:35:16Z","timestamp":1336088116000},"page":"663-665","source":"Crossref","is-referenced-by-count":3,"title":["Coexistence of Gilbert syndrome with hereditary haemolytic anaemias"],"prefix":"10.1136","volume":"65","author":[{"given":"Katarzyna","family":"Rawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Adamowicz-Salach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Matysiak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Trzemecka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Burzynska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,5,3]]},"reference":[{"key":"2025092509184121000_65.7.663.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2006.10.160"},{"key":"2025092509184121000_65.7.663.2","first-page":"593","article-title":"Gilbert's Syndrome\u2014Clinical and pharmacological implications","volume":"3","author":"Radu","year":"2001","journal-title":"Isr Med Assoc J"},{"key":"2025092509184121000_65.7.663.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199511023331802"},{"key":"2025092509184121000_65.7.663.4","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-9796(03)00118-9"},{"key":"2025092509184121000_65.7.663.5","first-page":"1106","article-title":"Thalassemia minor, the Gilbert mutation, and the risk of gallstones","volume":"88","author":"Borgna-Pignatti","year":"2003","journal-title":"Haematologica"},{"key":"2025092509184121000_65.7.663.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2010.00638.x"},{"key":"2025092509184121000_65.7.663.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2009.10.012"},{"key":"2025092509184121000_65.7.663.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00228-006-0166-3"},{"key":"2025092509184121000_65.7.663.9","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051241"},{"key":"2025092509184121000_65.7.663.10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1746.1999.01984.x"},{"key":"2025092509184121000_65.7.663.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.09.002"},{"key":"2025092509184121000_65.7.663.12","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e31815b8e7e"},{"key":"2025092509184121000_65.7.663.13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.22.12128"},{"key":"2025092509184121000_65.7.663.14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8170"},{"key":"2025092509184121000_65.7.663.15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1999.1331a.x"},{"key":"2025092509184121000_65.7.663.16","doi-asserted-by":"publisher","DOI":"10.2174\/1389200053586064"},{"key":"2025092509184121000_65.7.663.17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1183"},{"key":"2025092509184121000_65.7.663.18","first-page":"106","article-title":"(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome","volume":"84","author":"Iolascon","year":"1999","journal-title":"Haematologica"},{"key":"2025092509184121000_65.7.663.19","first-page":"319","article-title":"A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)8 allele","volume":"85","author":"Tsezou","year":"2000","journal-title":"Haematologica"},{"key":"2025092509184121000_65.7.663.20","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2008.035"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2011-200580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:18:47Z","timestamp":1758817127000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2011-200580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,3]]},"references-count":20,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2012,6,28]]},"published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1136\/jclinpath-2011-200580"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2011-200580","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[2012,5,3]]}}}