Alexis Smith, Mary Vijim Yu, Paul Mansfield, Isabella M Rosa, Margaret A Keller
{"title":"在两名非裔美国供体中，带有c.299C>T p.（Thr100Ile）单核苷酸变异的新JK*01等位基因与Jka表达缺失相关。","authors":"Alexis Smith, Mary Vijim Yu, Paul Mansfield, Isabella M Rosa, Margaret A Keller","doi":"10.2478/immunohematology-2026-004","DOIUrl":null,"url":null,"abstract":"<p><p>The JK blood group system encodes the antithetical antigens Jk<sup>a</sup> and Jkb as well as Jk3.1 <i>SLC14A1</i> on chromosome 18 spans approximately 28 kb and has 10 exons. The diallelic single nucleotide variant (SNV) c.838G>A p.(Asp280Asn) gives rise to the antithetical antigens Jk<sup>a</sup> or Jkb, respectively. At the time of this publication and including this novel allele, there are 12 <i>JK*01</i> alleles encoding Jk(a+w) and 29 <i>JK*01</i> null alleles, and 6 <i>JK*02</i> alleles encoding Jk(b+w) and 30 <i>JK*02</i> null alleles.<sup>2</sup> We describe two African American donors whose red blood cells (RBCs) tested Jk(a-b+) with polyclonal and monoclonal antisera. The RBC genotyping panel HemoID DQS (Agena Bioscience, San Diego, CA) predicted the sample to type Jk(a+b+). This discrepancy was investigated using Sanger sequencing of the coding exons and exon/intron junctions of <i>SLC14A1.</i></p>","PeriodicalId":13357,"journal":{"name":"Immunohematology","volume":"42 1","pages":"14-15"},"PeriodicalIF":0.0000,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel <i>JK*01</i> allele with c.299C>T p.(Thr100Ile) single nucleotide variant associated with loss of Jk<sup>a</sup> expression in two African American donors.\",\"authors\":\"Alexis Smith, Mary Vijim Yu, Paul Mansfield, Isabella M Rosa, Margaret A Keller\",\"doi\":\"10.2478/immunohematology-2026-004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The JK blood group system encodes the antithetical antigens Jk<sup>a</sup> and Jkb as well as Jk3.1 <i>SLC14A1</i> on chromosome 18 spans approximately 28 kb and has 10 exons. The diallelic single nucleotide variant (SNV) c.838G>A p.(Asp280Asn) gives rise to the antithetical antigens Jk<sup>a</sup> or Jkb, respectively. At the time of this publication and including this novel allele, there are 12 <i>JK*01</i> alleles encoding Jk(a+w) and 29 <i>JK*01</i> null alleles, and 6 <i>JK*02</i> alleles encoding Jk(b+w) and 30 <i>JK*02</i> null alleles.<sup>2</sup> We describe two African American donors whose red blood cells (RBCs) tested Jk(a-b+) with polyclonal and monoclonal antisera. The RBC genotyping panel HemoID DQS (Agena Bioscience, San Diego, CA) predicted the sample to type Jk(a+b+). This discrepancy was investigated using Sanger sequencing of the coding exons and exon/intron junctions of <i>SLC14A1.</i></p>\",\"PeriodicalId\":13357,\"journal\":{\"name\":\"Immunohematology\",\"volume\":\"42 1\",\"pages\":\"14-15\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2026-04-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Immunohematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/immunohematology-2026-004\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2026/3/1 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Immunohematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/immunohematology-2026-004","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/3/1 0:00:00","PubModel":"Print","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Novel JK*01 allele with c.299C>T p.(Thr100Ile) single nucleotide variant associated with loss of Jka expression in two African American donors.
The JK blood group system encodes the antithetical antigens Jka and Jkb as well as Jk3.1 SLC14A1 on chromosome 18 spans approximately 28 kb and has 10 exons. The diallelic single nucleotide variant (SNV) c.838G>A p.(Asp280Asn) gives rise to the antithetical antigens Jka or Jkb, respectively. At the time of this publication and including this novel allele, there are 12 JK*01 alleles encoding Jk(a+w) and 29 JK*01 null alleles, and 6 JK*02 alleles encoding Jk(b+w) and 30 JK*02 null alleles.2 We describe two African American donors whose red blood cells (RBCs) tested Jk(a-b+) with polyclonal and monoclonal antisera. The RBC genotyping panel HemoID DQS (Agena Bioscience, San Diego, CA) predicted the sample to type Jk(a+b+). This discrepancy was investigated using Sanger sequencing of the coding exons and exon/intron junctions of SLC14A1.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
