{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T19:20:49Z","timestamp":1781551249781,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"6pt2","license":[{"start":{"date-parts":[[2014,12,18]],"date-time":"2014-12-18T00:00:00Z","timestamp":1418860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Background<\/jats:title>The high\u2010prevalence antigen J<\/jats:styled-content>ra<\/jats:sup> is carried on the ATP<\/jats:styled-content>\u2010binding cassette transporter ABCG2<\/jats:styled-content>. The ABCG2<\/jats:styled-content><\/jats:italic> gene consists of 16 exons and its translation start codon is located on the second exon. Although the occurrence of the J<\/jats:styled-content>r(a\u2212) phenotype is rare, several ABCG2<\/jats:styled-content><\/jats:italic> null alleles have been reported. We report a new ABCG2<\/jats:styled-content><\/jats:italic> null allele having a large deletion in this study.<\/jats:p><\/jats:sec>Study Design and Methods<\/jats:title>The J<\/jats:styled-content>ra<\/jats:sup> status was determined by standard serologic tests and genomic DNA<\/jats:styled-content> was isolated from whole blood. Exons 1 to 16 and the 5\u2032\u2010untranslated region of the ABCG2<\/jats:styled-content><\/jats:italic> gene were analyzed by polymerase chain reaction and sequencing. Expression of the ABCG2<\/jats:styled-content> protein on red blood cells was examined by immunoblotting.<\/jats:p><\/jats:sec>Results<\/jats:title>A J<\/jats:styled-content>r(a\u2212) blood donor had a novel allele having a 27\u2010kb deletion including noncoding E<\/jats:styled-content>xon\u20091 and the promoter region of ABCG2<\/jats:styled-content><\/jats:italic>, and the donor was apparently homozygous for the allele. In addition, we found three more individuals having heterozygosity for the same allele, with ABCG2<\/jats:styled-content>*01N<\/jats:styled-content>.01<\/jats:italic> having c.376C<\/jats:styled-content>>T<\/jats:styled-content> (p.Q126X<\/jats:styled-content>), but did not find the allele having the 27\u2010kb deletion in 3000 J<\/jats:styled-content>r(a+) individuals. Immunoblotting revealed that the ABCG2<\/jats:styled-content> protein was not found to be expressed in the individual with homozygosity for the ABCG2<\/jats:styled-content> 27\u2010kb deleted<\/jats:italic> and in two individuals with an ABCG2<\/jats:styled-content> 27\u2010kb deleted\/ABCG2<\/jats:styled-content>*01N<\/jats:styled-content>.01<\/jats:italic> genotype, which indirectly allows to conclude that the 27\u2010kb deletion is responsible for a null ABCG2<\/jats:styled-content><\/jats:italic> allele.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>We first identified an ABCG2<\/jats:styled-content><\/jats:italic> null allele (provisional ISBT<\/jats:styled-content> allele number ABCG2<\/jats:styled-content>*01N.23<\/jats:italic>) having a large deletion including the promoter region.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.12969","type":"journal-article","created":{"date-parts":[[2014,12,19]],"date-time":"2014-12-19T09:00:07Z","timestamp":1418979607000},"page":"1467-1471","source":"Crossref","is-referenced-by-count":13,"title":["A new ABCG2<\/scp><\/i> null allele with a 27\u2010kb deletion including the promoter region causing the J<\/scp>r(a\u2212) phenotype"],"prefix":"10.1111","volume":"55","author":[{"given":"Kenichi","family":"Ogasawara","sequence":"first","affiliation":[{"name":"Japanese Red Cross Central Blood Institute Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Osabe","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Blood Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Blood Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatsue","family":"Tsuneyama","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Blood Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazumi","family":"Isa","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Central Blood Institute Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Kawai","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Saitama Blood Center Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumi","family":"Obara","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Saitama Blood Center Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Ogiyama","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Tohoku Block Blood Center Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoichi","family":"Ito","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Tohoku Block Blood Center Miyagi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Uchikawa","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Kanto\u2010Koshinetsu Block Blood Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Satake","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Central Blood Institute Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Tadokoro","sequence":"additional","affiliation":[{"name":"Japanese Red Cross Central Blood Institute Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,12,18]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"StroupM MacIlroyM.Five examples of an antibody defining an antigen of high frequency in the Caucasian population. 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