{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T17:47:25Z","timestamp":1775065645701,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T00:00:00Z","timestamp":1683763200000},"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":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The Kidd blood group gene <jats:italic>SLC14A1<\/jats:italic> (<jats:italic>JK<\/jats:italic>) accounts for approximately 20 Kb from initiation codon to stop codon in the genome. In genomic DNA analysis using Sanger sequencing or short\u2010read\u2010based next generation sequencing, it is difficult to determine the <jats:italic>cis<\/jats:italic> or <jats:italic>trans<\/jats:italic> positions of single nucleotide variations (SNVs), which are occasionally more than 1 Kb away from each other. We aimed to determine the complete nucleotide sequence of a 20\u2010Kb genomic DNA amplicon to characterize the <jats:italic>JK<\/jats:italic> allelic variants associated with Kidd antigen silencing in a blood donor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design and Methods<\/jats:title><jats:p>The Jk(a\u2013b\u2013) phenotype was identified in this donor by standard serological typing. A DNA sample obtained from whole blood was amplified by long\u2010range PCR to obtain a 20\u2010Kb fragment of the <jats:italic>SLC14A1<\/jats:italic> gene, including the initiation and stop codons. The fragment was then analyzed by Sanger sequencing and single\u2010molecule sequencing. Transfection and expression studies were performed in CHO cells using the expression vector construct of <jats:italic>JK<\/jats:italic> alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sanger sequencing and single\u2010molecule sequencing revealed that the donor was heterozygous with <jats:italic>JK*01<\/jats:italic> having c.276G&gt;A (rs763262711, p.Trp92Ter) and <jats:italic>JK*02<\/jats:italic> having c.499A&gt;G (rs2298719, p.Met167Val), c.588A&gt;G (rs2298718, p.Pro196Pro), and c.743C&gt;A (p.Ala248Asp). The two <jats:italic>JK<\/jats:italic> alleles identified have not been previously described. Transfection and expression studies indicated that the CHO cells transfected with <jats:italic>JK*02<\/jats:italic> having c.743C&gt;A did not express the Jk<jats:sup>b<\/jats:sup> and Jk3 antigens.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We identified new <jats:italic>JK<\/jats:italic> silencing alleles and their critical SNVs by single\u2010molecule sequencing and the findings were confirmed by transfection and expression studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.17397","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T09:55:41Z","timestamp":1683798941000},"page":"1441-1446","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two new <scp><i>JK<\/i><\/scp> silencing alleles identified by single molecule sequencing with <scp>20\u2010Kb<\/scp> long\u2010reads"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4265-389X","authenticated-orcid":false,"given":"Kazumi","family":"Isa","sequence":"first","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinnosuke","family":"Takada","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiromi","family":"Takeda","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Hokkaido Block Blood Center  Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatsue","family":"Tsuneyama","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"},{"name":"Japanese Red Cross Society Kanto\u2010Koshinetsu Block Blood Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7675-7227","authenticated-orcid":false,"given":"Kenichi","family":"Ogasawara","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeki","family":"Miyata","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4660-6839","authenticated-orcid":false,"given":"Masahiro","family":"Satake","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Society Blood Service Headquarters Central Blood Institute  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.1986.26386209377.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1537-2995.1995.35395184290.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2012.03750.x"},{"key":"e_1_2_7_5_1","unstructured":"ISBT.International Society of Blood Transfusion. 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