{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T16:26:07Z","timestamp":1778775967091,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T00:00:00Z","timestamp":1605052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Bombay and para\u2010Bombay phenotypes, which arise from gene mutations of <jats:italic>\u03b1\u20101<\/jats:italic>,<jats:italic>2\u2010fucosyltransferase FUT1<\/jats:italic>, are very rare in Chinese population. A para\u2010Bombay phenotype Chinese individual with two novel <jats:italic>FUT1<\/jats:italic> mutations was reported here.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design and Methods<\/jats:title><jats:p>The peripheral blood and saliva samples of the proband and her family members were collected after informed consent. ABO and H blood group phenotyping was performed by haemagglutination methods. ABO genotype was determined by PCR\u2010SSP kit. A, B, and H antigens in saliva were detected by a hemagglutination inhibition test. Fragments encompassing the full coding region of <jats:italic>FUT1<\/jats:italic> and <jats:italic>FUT2<\/jats:italic> genes were PCR amplified and sequenced. Allelic sequences were validated by cloning and sequencing individual colonies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The serologic reaction results of the proband revealed that A, B, and H antigen were absent on RBCs, but B and H antigen were presented in saliva, and the serum contains anti\u2010H. The proband was assigned as <jats:italic>B\/O1<\/jats:italic> by ABO genotyping. Two new heterozygous mutations of <jats:italic>FUT1<\/jats:italic> gene, c.508dupT and c.787A&gt;C, were identified through direct sequencing of PCR\u2010amplified products. TA cloning and sequencing confirmed that two novel mutations were on different alleles. <jats:italic>FUT2<\/jats:italic> gene sequence of the proband is consistent with standard. The other family members of the proband showed normal phenotypes of ABO blood group and their genotypes are consistent with phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Two novel <jats:italic>FUT1<\/jats:italic> alleles, with the previously not reported mutations c.508dupT and c.787C, respectively, are responsible for the para\u2010Bombay phenotype detected in the sample from the proband.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.16183","type":"journal-article","created":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T17:19:15Z","timestamp":1605115155000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two novel <scp><i>FUT1<\/i><\/scp> alleles that cause <scp>para\u2010Bombay<\/scp> phenotype in a Chinese individual"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0110-1383","authenticated-orcid":false,"given":"Feng\u2010Qiu","family":"Lin","sequence":"first","affiliation":[{"name":"Key Laboratory of Blood Safety Research of Liaoning  Shenyang China"},{"name":"Liaoning Blood Center  Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun\u2010Lian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Blood Safety Research of Liaoning  Shenyang China"},{"name":"Liaoning Blood Center  Shenyang 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":"Key Laboratory of Blood Safety Research of Liaoning  Shenyang China"},{"name":"Liaoning Blood Center  Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2142-6436","authenticated-orcid":false,"given":"Xu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Blood Safety Research of Liaoning  Shenyang China"},{"name":"Liaoning Blood Center  Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Harbin Blood Center  Harbin 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":"Key Laboratory of Blood Safety Research of Liaoning  Shenyang China"},{"name":"Liaoning Blood Center  Shenyang China"},{"name":"Harbin Blood Center  Harbin China"},{"name":"Department of Pharmacology School of Pharmacy, China Medical University  Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/345229a0"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.9.4640"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V90.2.839"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2005.04305.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2006.01045.x"}],"container-title":["Transfusion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.16183","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/trf.16183","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/trf.16183","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T01:21:12Z","timestamp":1693876872000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/trf.16183"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,11]]},"references-count":5,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1111\/trf.16183"],"URL":"https:\/\/doi.org\/10.1111\/trf.16183","archive":["Portico"],"relation":{},"ISSN":["0041-1132","1537-2995"],"issn-type":[{"value":"0041-1132","type":"print"},{"value":"1537-2995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,11]]},"assertion":[{"value":"2020-07-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}