P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo‐blood group systems

• DOI: 10.1111/trf.12355
• Publication Date: 2013-08-09T02:14:55Z
• Authors: Julia S. Westman; Åsa Hellberg; Thierry Peyrard; Hein Hustinx; Britt Thuresson; Martin L. Olsson
• Keywords: Null allele

The rare but clinically important null phenotypes of the P1PK and GLOB blood group systems are due to alterations in A4GALT B3GALNT1, respectively. A recently identified single-nucleotide polymorphism Exon 2a predicts common P1 P2 variants have not been tested.The aim this study was analyze 84 p, (k) , samples, with special emphasis on unknown alleles P(1) /P(2) marker. Of these, 27 samples came from individuals previously investigated genetically were therefore subjected sequencing or a subset tested by flow cytometry.The genotyping linked 20 p-inducing mutations P(2) allelic background. Eight p remain unlinked compound heterozygosity. For 23 25 P(k) concordant results observed: had at least one allele while only. two remaining typed as P1+ P1+(w) . tendency toward higher antigen expression observed cells compared In total, six found characterized four new changes revealed B3GALNT1.For first time, shown occur both backgrounds. Furthermore, predicted versus phenotype more than 90% globoside-deficient samples. number GLOB-null increased 50% several P1PK-null identified.