What question did this study set out to answer?

To identify a novel JK*01 allele associated with loss of Jk a expression in specific blood donors.

April 13, 2026

Novel JK*01 allele with c.299C>T p.(Thr100Ile) single nucleotide variant associated with loss of Jk a expression in two African American donors

Key Points

To identify a novel JK*01 allele associated with loss of Jk a expression in specific blood donors.
Analyzed red blood cells of two African American donors using polyclonal and monoclonal antisera.
Conducted genotyping with HemoID DQS to predict Jk(a+b+).
Performed Sanger sequencing on coding exons and exon/intron junctions of SLC14A1.
Identified a novel c.299C>T p.(Thr100Ile) variant in the JK*01 allele.
Discrepancy in predicted versus actual blood type observed.
Confirmed Jk(a–b+) expression in the two donors despite expected Jk(a+b+).

Abstract

Abstract The JK blood group system encodes the antithetical antigens Jk a 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 Jk a 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.

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Novel JK*01 allele with c.299C>T p.(Thr100Ile) single nucleotide variant associated with loss of Jk a expression in two African American donors

Key Points

Abstract

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