{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:05:32Z","timestamp":1779962732403,"version":"3.53.1"},"reference-count":22,"publisher":"Charles University in Prague, Karolinum Press","issue":"3","license":[{"start":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:00:00Z","timestamp":1715299200000},"content-version":"vor","delay-in-days":3417,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:00:00Z","timestamp":1715299200000},"content-version":"tdm","delay-in-days":3417,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PRVOUK P37"],"award-info":[{"award-number":["PRVOUK P37"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["SVV 260057\/2014"],"award-info":[{"award-number":["SVV 260057\/2014"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fol. Biol."],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>\n                    The aim of the study is to present a novel approach for preparing triple-compound heterozygous reference material (TCH-RM) for thiopurine S-methyltransferase (\n                    <jats:italic>TPMT<\/jats:italic>\n                    ) genotyping by using the gene synthesis technology. The polynucleotide chain we prepared consisted of three wild-type and three mutant segments corresponding to the\n                    <jats:italic>TPMT<\/jats:italic>\n                    <jats:italic>238G&gt;C<\/jats:italic>\n                    ,\n                    <jats:italic>460G&gt;A<\/jats:italic>\n                    , and\n                    <jats:italic>719A&gt;G<\/jats:italic>\n                    polymorphic sites. TCH-RM characteristics were assessed via four methods: reverse hybridization, real-time PCR with hydrolysis probes, real-time PCR followed by subsequent melting temperature analysis, and DNA sequencing. Consequently, we investigated the\n                    <jats:italic>TPMT<\/jats:italic>\n                    genotype of 371 patients suffering from autoimmune diseases requiring immunosuppressive therapy with thiopurine drugs, mostly inflammatory bowel disease. All methods confirmed the triple heterozygous character and commutability of TCH-RM. In evaluating its stability we obtained very comparable data before and after six months of storage at -80 \u00b0C. The determined genotypes were as follows: 352 wild-type subjects (94.8 %), 17\n                    <jats:italic>TPMT*3A<\/jats:italic>\n                    heterozygotes (460G&gt;A and 719A&gt;G, 4.6 %), one patient heterozygous for the\n                    <jats:italic>TPMT*2<\/jats:italic>\n                    allele (238G&gt;C, 0.3 %), and one\n                    <jats:italic>TPMT*3C<\/jats:italic>\n                    heterozygote (719A&gt;G, 0.3 %). The frequencies of\n                    <jats:italic>TPMT*1<\/jats:italic>\n                    ,\n                    <jats:italic>*3A<\/jats:italic>\n                    ,\n                    <jats:italic>*3C<\/jats:italic>\n                    , and\n                    <jats:italic>*2<\/jats:italic>\n                    in the patients were 97.5 %, 2.3 %, 0.1 %, and 0.1 %, respectively. Assembling segments of synthetic DNA into long polynucleotide chains is a universal way of obtaining compound heterozygous material for performing any simultaneous analysis of polymorphic sites in the human genome. The batches are manufactured with a perfect concentration match of wildtype and mutant fragments, and can be made in large quantities for most diagnostic techniques.\n                  <\/jats:p>","DOI":"10.14712\/fb2015061030091","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T01:48:21Z","timestamp":1715305701000},"page":"91-96","source":"Crossref","is-referenced-by-count":0,"title":["Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants"],"prefix":"10.14712","volume":"61","author":[{"given":"Martin","family":"Ber\u00e1nek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Drast\u00edkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bure\u0161","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Pali\u010dka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2024,5,10]]},"reference":[{"key":"fb2015061030091_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fgene.2014.00096","volume":"5","author":"Almoguera","year":"2014","journal-title":"Front. Genet."},{"key":"fb2015061030091_2","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/8.2.367","volume":"8","author":"Ameyaw","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"fb2015061030091_3","doi-asserted-by":"crossref","first-page":"539","DOI":"10.5507\/bp.2014.041","volume":"158","author":"Ber\u00e1nek","year":"2014","journal-title":"Biomed. Pap. Med. Fac. Univ. Palacky Olomouc Czech Repub."},{"key":"fb2015061030091_4","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.clinbiochem.2014.07.088","volume":"47","author":"Burchard","year":"2014","journal-title":"Clin. 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Available at: http:\/\/www.uptodate.com\/contents\/6-mercaptopurine-6-mp-metabolite-monitoring-and-tpmt-testing-in-the-treatment-ofinflammatory-bowel-disease-with-6-mp-or-azathioprine."},{"key":"fb2015061030091_12","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.crohns.2010.06.005","volume":"4","author":"Pozler","year":"2010","journal-title":"J. Crohns Colitis"},{"key":"fb2015061030091_13","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1038\/clpt.2013.4","volume":"93","author":"Relling","year":"2013","journal-title":"Clin. Pharmacol. Ther."},{"key":"fb2015061030091_14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.cccn.2003.10.029","volume":"341","author":"Roberts","year":"2004","journal-title":"Clin. Chim. Acta"},{"key":"fb2015061030091_15","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.clinthera.2012.02.017","volume":"34","author":"Roman","year":"2012","journal-title":"Clin. 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Pharmacogenomics"}],"container-title":["Folia Biologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/foliabiologica.lf1.cuni.cz\/media\/pdf\/fb_2015061030091.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/foliabiologica.lf1.cuni.cz\/media\/pdf\/fb_2015061030091.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T09:32:05Z","timestamp":1779960725000},"score":1,"resource":{"primary":{"URL":"https:\/\/fb.littledata.cz\/61\/3\/0091\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":22,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2015]]}},"alternative-id":["fb_2015061030091"],"URL":"https:\/\/doi.org\/10.14712\/fb2015061030091","relation":{},"ISSN":["0015-5500","2533-7602"],"issn-type":[{"value":"0015-5500","type":"print"},{"value":"2533-7602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}