{
  "abstract": "Background: The Kidd (Jk) blood group system is defined by the Jk a , Jk b and Jk3 antigens encoded by the SLC14A1 gene. The Jk(a-b-) phenotype, characterized by the absence of these antigens, is a rare blood group phenotype with a low population frequency, and its molecular basis is primarily associated with variants in the SLC14A1 gene. Herein, we identified an individual with the Jk(a-b-) phenotype carrying a variant, and evaluated whether this variant affects Jk antigen expression.\n\nMethods: The Jk(a-b-) phenotype was identified by conventional serological typing. The coding sequence of the SLC14A1 gene was analyzed using polymerase chain reaction sequence-based typing (PCR-SBT), and haplotype analysis was performed using single-molecule sequencing. The functional impact of the variant was evaluated through in vitro transfection and expression assays, and Jk b antigen expression on transfected cells was assessed by flow cytometry. The potential functional impact of the variant was also evaluated using in silico prediction tools.\n\nResults: Jk a , Jk b and Jk3 antigens were absent in the proband. PCR-SBT identified three heterozygous single-nucleotide variants (SNVs) and two homozygous SNVs across four exons of the SLC14A1 gene. Single-molecule sequencing revealed two haplotypes: one comprising c.342-1G>A, c.588A>G, and c.838G>A, and the other comprising c.230G>A, c.499A>G, c.588A>G, and c.838G>A. In silico analysis predicted c.230G>A to be a deleterious variant and indicated that it altered interactions with neighboring atoms. Functional assays showed that cells transfected with JK(c.230G>A+c.499A>G+c.588A>G+c.838G>A) did not express the Jk b antigen, while cells transfected with the JK*02 allele or JK(c.499A>G+c.588A>G+c.838G>A) exhibited high levels of Jk b antigen expression.\n\nConclusions: A JK null allele and its critical SNV were identified, and the functional effect of the variant was confirmed through transfection and expression studies.",
  "abstract_shown": true,
  "affiliations": [
    "Blood Center of Zhejiang Province"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Xiaozhen Hong"
    },
    {
      "affs": [
        0
      ],
      "name": "Jingjing Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "Yanling Ying"
    },
    {
      "affs": [
        0
      ],
      "name": "Xianguo Xu"
    },
    {
      "affs": [
        0
      ],
      "name": "Faming Zhu"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/drsw6hpeq2mx7.bib",
  "cited_by": 0,
  "doi": "10.3389/fimmu.2026.1922509",
  "fulltext_url": null,
  "id": "drsw6hpeq2mx7",
  "issns": [
    "1664-3224"
  ],
  "landing_url": "https://www.frontiersin.org/articles/10.3389/fimmu.2026.1922509/full",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [],
  "openalex": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-29",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/drsw6hpeq2mx7.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:17Z",
      "native_id": "10.3389/fimmu.2026.1922509",
      "source": "crossref",
      "url": "https://www.frontiersin.org/articles/10.3389/fimmu.2026.1922509/full"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "issn:1664-3224",
      "subfield": "immunology"
    }
  ],
  "title": "A SLC14A1 c.230G>A variant causes loss of Kidd antigen expression",
  "title_text": "A SLC14A1 c.230G>A variant causes loss of Kidd antigen expression",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T00:20:59Z",
  "url": "https://research.draconitic.com/paper/drsw6hpeq2mx7",
  "venue": "Frontiers in Immunology",
  "versions": []
}