{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T08:08:54Z","timestamp":1771315734821,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2025,10]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n The D\u2010negative phenotype demonstrates significant ethnic diversity in its molecular background. This study reports the identification of a novel\n RHD*01\u2009N<\/jats:italic>\n allele resulting from a splicing site variation observed in a Chinese blood donor.\n <\/jats:p>\n <\/jats:sec>\n \n Study Design and Methods<\/jats:title>\n \n The D blood group phenotype was determined using serological techniques, including the saline method, and the indirect antiglobulin test (IAT) performed by both tube and microcolumn gel methods. Screening for the\n RHD<\/jats:italic>\n gene was performed by directly amplifying exon 10 of the\n RHD<\/jats:italic>\n gene from whole blood samples. Upon confirming the presence of the\n RHD<\/jats:italic>\n gene in the sample, further detailed analysis was performed using Sanger sequencing and third\u2010generation single\u2010molecule real\u2010time (SMRT) sequencing technologies. Additionally, the deep learning\u2010based tool SpliceAI (Illumina, USA) was used to evaluate the potential impact of an unreported variant on splicing.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The D antigen in the proband's blood sample was detected as negative by both automated and manual methods. Exon 10 of the\n RHD<\/jats:italic>\n gene was detected as positive. Sanger sequencing and third\u2010generation single\u2010molecule real\u2010time (SMRT) sequencing were utilized for the detection of the\n RHD<\/jats:italic>\n gene, and the results demonstrated that the sample carried a single\n RHD<\/jats:italic>\n haplotype harboring a c.634+1G>A splice site variant. The SpliceAI prediction indicates that the c.634+1G>A splice site variant has a significant impact on splicing.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n A novel\n RHD<\/jats:italic>\n allele harboring the c.634+1G>A splice site variant, which results in the RhD\u2010negative phenotype, was identified and characterized in a Chinese blood donor.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/trf.18390","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T12:59:18Z","timestamp":1757077158000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel\n RHD*01N<\/i>\n allele harboring a c.634+\n 1G<\/scp>\n >A splice site variant results in the\n RhD<\/scp>\n \u2010negative phenotype in a Chinese blood donor"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2142-6436","authenticated-orcid":false,"given":"Xu","family":"Zhang","sequence":"first","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhu\u2010ren","family":"Zhou","sequence":"additional","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu\u2010ying","family":"Huang","sequence":"additional","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010chun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3888-6359","authenticated-orcid":false,"given":"Xiao\u2010Feng","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"},{"name":"Department of Pharmacology, School of Pharmacy China Medical University Shenyang Liaoning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5392-0471","authenticated-orcid":false,"given":"Jian\u2010Ping","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Transfusion Medicine, Liaoning Blood Center Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Liaoning Province Shenyang Liaoning China"},{"name":"Key Laboratory of Blood Safety Research of Shenyang City Shenyang Liaoning China"},{"name":"Department of Pharmacology, School of Pharmacy China Medical University Shenyang Liaoning China"},{"name":"Suzou Institute of Biomedical Engineering and Technology Chinese Academy of Sciences Suzhou Jiangsu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,5]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology.https:\/\/www.isbtweb.org\/isbt-working-parties\/rcibgt.html"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-02134-9"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.17491"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.18223"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_8_7_1","unstructured":"Genome Aggregation Database (GnomAD). v3.1.2.https:\/\/gnomad.broadinstitute.org\/"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/trf.18057"}],"container-title":["Transfusion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.18390","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/trf.18390","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.18390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T07:23:45Z","timestamp":1771313025000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/trf.18390"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,5]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/trf.18390"],"URL":"https:\/\/doi.org\/10.1111\/trf.18390","archive":["Portico"],"relation":{},"ISSN":["0041-1132","1537-2995"],"issn-type":[{"value":"0041-1132","type":"print"},{"value":"1537-2995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,5]]},"assertion":[{"value":"2025-05-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}