Novel hybrid genes and a splice site mutation encoding the Sta antigen among Japanese blood donors. Issue 8 (11th May 2020)

• Record Type: Journal Article
• Authors: Watanabe‐Okochi, Naoko; Tsuneyama, Hatsue; Isa, Kazumi; Sasaki, Kana; Suzuki, Yumi; Yabe, Ryuichi; Tsuno, Nelson‐Hirokazu; Nakajima, Kazunori; Ogasawara, Kenichi; Uchikawa, Makoto
• Is Part Of: Vox sanguinis. Volume 115:Issue 8(2020)
• Page Start: 756
• Page End: 766
• Publication Date: 2020-05-11
• Subjects: glycophorin A -- glycophorin B -- glycophorin E -- MNS blood group -- Sta; Blood -- Periodicals; Blood -- Transfusion -- Periodicals; Immunohematology -- Periodicals; Immunopathology -- Periodicals; 615.39
• DOI: 10.1111/vox.12921
• Languages: English
• ISSNs: 0042-9007

Abstract

Abstract : Background: The low‐incidence antigen St a of the MNS system is usually associated with the GP(B‐A) hybrid molecule, which carries the 'N' antigen at the N terminus. The GP(A‐A) molecule with trypsin‐resistant M antigen has been found in a few St(a+) individuals. Materials and Methods: Among Japanese blood donors, we screened 24 292 individuals for the presence of St(a+) with trypsin‐resistant 'N' antigen and 193 009 individuals for the presence of St(a+) with trypsin‐resistant M antigen. The breakpoints responsible for the St a antigen were analysed by sequencing the genomic DNAs. Results: A total of 1001 (4·1%) individuals were identified as St(a+) with trypsin‐resistant 'N' antigen. Out of 1001 individuals, 115 were selected randomly for sequencing. Two novel GYP*Sch ( GYP*401 ) variants with new intron 3 breakpoints of GYPA were detected in three cases. Twenty‐five (0·013%) individuals were identified as St(a+) with trypsin‐resistant M antigen. Five individuals had the GYP(A‐ψB‐A) hybrid allele; two of these five individuals were GYP*Zan ( GYP*101.01 ), and the remaining three had a novel GYP(A‐ψB‐A) allele with the first breakpoint in GYPA exon A3 between c.178 and c.203. Nine individuals had a novel GYP(A‐E‐A) allele with GYPE exon E2 and pseudoexon E3 instead of GYPA exon A2 and A3. The 11 remaining individuals had a novel GYP(A‐A) allele with a 9‐bp deletion that included the donor splice site of intron 3 of GYPA . Conclusion: Our finding on diversity of glycophorin genes responsible for St a antigen provides evidence for further complexity in the MNS system.