{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:59:54Z","timestamp":1791489594510,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic testing of <jats:italic>UGT1A1<\/jats:italic> was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>DNA was extracted from whole blood samples of patients with unconjugated hyperbilirubinemia, and sequencing of the <jats:italic>UGT1A1<\/jats:italic> gene was performed after PCR amplification. After alignment with reference sequences, the known pathogenic variants were identified, the variant spectrum was analyzed, and the pathogenicity of novel variants was predicted using online mutation prediction tools.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 117 patients were confirmed with Gilbert syndrome by <jats:italic>UGT1A1<\/jats:italic> genetic diagnosis, where the most common pathogenic variants included promoter A(TA)<jats:sub>7<\/jats:sub>TAA insertion and p.Gly71Arg missense variant. Following novel variants were also identified: p.Ala61Gly, p.Tyr67Phe, p.Leu166Alafs*16, p.Arg240Lys, p.Ser306Phe, p.Arg341Gln, and p.Glu424* variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Genetic testing of <jats:italic>UGT1A1<\/jats:italic> in clinical practices could facilitate confirming Gilbert syndrome and performing differential diagnosis. The pathogenic variant spectrum in the Chinese population was similar to other Asian populations. The novel pathogenic variants identified in this study require further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1958","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T06:59:11Z","timestamp":1650005951000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Genetic testing of <scp><i>UGT1A1<\/i><\/scp> in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3878-7262","authenticated-orcid":false,"given":"Leilei","family":"Gu","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Han","sequence":"additional","affiliation":[{"name":"Research Laboratory of Clinical Virology, Department of Infectious Diseases, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donghua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Research Laboratory of Clinical Virology, Department of Infectious Diseases, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiming","family":"Gong","sequence":"additional","affiliation":[{"name":"Research Laboratory of Clinical Virology, Department of Infectious Diseases, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-6425","authenticated-orcid":false,"given":"Xinxin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Research Laboratory of Clinical Virology, Department of Infectious Diseases, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Clinical Research Center, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000013576"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2610"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.01.003"},{"issue":"3","key":"e_1_2_10_5_1","first-page":"998","article-title":"Interindividual variability in acetaminophen glucuronidation by human liver microsomes: Identification of relevant acetaminophen UDP\u2010glucuronosyltransferase isoforms","volume":"299","author":"Court M. 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