{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T15:58:17Z","timestamp":1782230297272,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T00:00:00Z","timestamp":1705363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"published-print":{"date-parts":[[2024,4]]},"abstract":"Abstract<\/jats:title>\n \n Background and Objectives<\/jats:title>\n \n Mixed\u2010field agglutination in ABO phenotyping (A\n 3<\/jats:sub>\n , B\n 3<\/jats:sub>\n ) has been linked to genetically different blood cell populations such as in chimerism, or to rare variants in either\n ABO<\/jats:italic>\n exon 7 or regulatory regions. Clarification of such cases is challenging and would greatly benefit from sequencing technologies that allow resolving full\u2010gene haplotypes at high resolution.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods<\/jats:title>\n \n We used long\u2010read sequencing by Oxford Nanopore Technologies to sequence the entire\n ABO<\/jats:italic>\n gene, amplified in two overlapping long\u2010range PCR fragments, in a blood donor presented with A\n 3<\/jats:sub>\n B phenotype. Confirmation analyses were carried out by Sanger sequencing and included samples from other family members.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Our data revealed a novel heterozygous g.10924C>A variant on the\n ABO*A<\/jats:italic>\n allele located in the transcription factor binding site for RUNX1 in intron 1 (+5.8\u2009kb site). Inheritance was shown by the results of the donor's mother, who shared the novel variant and the anti\u2010A specific mixed\u2010field agglutination.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n We discovered a regulatory variant in the 8\u2010bp RUNX1 motif of\n ABO<\/jats:italic>\n , which extends current knowledge of three other variants affecting the same motif and also leading to A\n 3<\/jats:sub>\n or B\n 3<\/jats:sub>\n phenotypes. Overall, long\u2010range PCR combined with nanopore sequencing proved powerful and showed great potential as an emerging strategy for resolving cases with cryptic ABO phenotypes.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/vox.13580","type":"journal-article","created":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T05:29:34Z","timestamp":1705382974000},"page":"377-382","source":"Crossref","is-referenced-by-count":10,"title":["Novel regulatory variant in\n ABO<\/i>\n intronic\n RUNX1<\/scp>\n binding site inducing\n \n A\n 3<\/sub>\n <\/scp>\n phenotype"],"prefix":"10.1111","volume":"119","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4436-3455","authenticated-orcid":false,"given":"Gian Andri","family":"Thun","sequence":"first","affiliation":[{"name":"Department of Research and Development, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8574-9640","authenticated-orcid":false,"given":"Morgan","family":"Gueuning","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Sigurdardottir","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Gourri","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"},{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Merki","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Trost","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Neuenschwander","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Engstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Immunohematology, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2514-8621","authenticated-orcid":false,"given":"Beat M.","family":"Frey","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"},{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"},{"name":"Department of Immunohematology, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja P.","family":"Mattle\u2010Greminger","sequence":"additional","affiliation":[{"name":"Department of Research and Development, Blood Transfusion Service Zurich Swiss Red Cross Schlieren Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,16]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Red Cell Immunogenetics and Blood Group Terminology (ISBT).2023. Available from:http:\/\/www.isbtweb.org\/isbt-working-parties\/rcibgt\/blood-group-allele-tables.html. Last accessed 22 Dec 2023."},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.15760"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960122)61:3<264::AID-AJMG11>3.0.CO;2-R"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0338-4535(80)80133-4"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2022007133"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad1059"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq356"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2009.02398.x"},{"key":"e_1_2_9_10_1","first-page":"15","article-title":"Disrupted RUNX1 motifs in the ABO gene explain samples with A3 and B3 phenotypes","volume":"115","author":"Hult AK","year":"2020","journal-title":"Vox Sang"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-10-387167"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.12676"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.13207"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.12136"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.12220"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/vox.12077"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.14654"}],"container-title":["Vox Sanguinis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vox.13580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T22:06:27Z","timestamp":1717625187000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vox.13580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,16]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1111\/vox.13580"],"URL":"https:\/\/doi.org\/10.1111\/vox.13580","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2023.05.04.539366","asserted-by":"object"}]},"ISSN":["0042-9007","1423-0410"],"issn-type":[{"value":"0042-9007","type":"print"},{"value":"1423-0410","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,16]]}}}