A novel DO null allele with a c.268C>T (p.Gln90Stop) mutation in Japanese

Abstract

The Dombrock blood group system consists of two antithetical antigens, Do(a) (DO1) and Do(b) (DO2), and seven high-prevalence antigens, Gy(a) (DO3), Hy (DO4), Jo(a) (DO5), DOYA (DO6), DOMR (DO7), DOLG (DO8) and DOLC (DO9). Do(a) /Do(b) polymorphism is associated with c.793A>G (p.Asn265Asp) in exon 2 of the DO (ART4) gene, and the corresponding alleles are named DO*01 and DO*02. The rare Donull or Gy(a-) phenotype lacks all Dombrock antigens, and the DO null alleles vary with both DO*01 and DO*02 backgrounds. We report a novel DO null allele, which has a c.268C>T (p.Gln90Stop) nonsense mutation with a DO*02 background identified from four unrelated Gy(a-) Japanese individuals.

Integrative genome analysis identified the KANNO blood group antigen as prion protein

“…Exons 1 to 2 of the PRNP gene were amplified by long‐range PCR (approx. 15.9 kb) using primers PRNP‐GXLF1 and PRNP‐GXLR1 and PrimeSTAR GXL DNA polymerase according to the method described previously . Nucleotide sequences of the exons and their flanking regions were analyzed by cycle sequencing (BigDye Terminator version 1.1 Cycle Sequencing kit, Applied Biosystems) and genetic analyzer (model 3500xL; Applied Biosystems).…”

Silent KEL alleles identified from Japanese individuals with the Ko phenotype

“…All the primers used for polymerase chain reaction (PCR) or cycle sequencing are shown in Table . Exons 1 to 19 of the KEL gene were amplified by long‐range PCR (PCR1; approximately 21·5‐kb) using the primers, KEL‐GXLF1 and KEL‐GXLR1, and PrimeSTAR GXL DNA polymerase according to the method described previously . Nucleotide sequence of the exons and their flanking regions were analysed by cycle sequencing (BigDye Terminator v1·1 Cycle Sequencing kit; Applied Biosystems, Carlsbad, CA, USA) and Genetic Analyser (model 3500xL; Applied Biosystems).…”

DO/ART4gene sequencing in sub‐Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants

“…Gy a negative phenotype (DO null ) defined by the complete lack of all Dombrock antigens on RBC membranes, is reported to originate from at least nine molecular backgrounds …”