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Background  The molecular genetics of the P blood group system and the absence of P1 antigen in the p phenotype are still enigmatic. One theory proposes that the same gene encodes for both the P1 and P k  glycosyltransferases, but no polymorphisms in the coding region of the  P   k   gene explain the P 1 /P 2  phenotypes. We investigated the potential regulatory regions up- and downstream of the  A4GALT  ( P   k  ) gene exons.    Results  P 1  (n = 18) and P 2  (n = 9) samples from donors of mainly Swedish descent were analysed by direct sequencing of PCR-amplified 5'- and 3'-fragments surrounding the  P   k   coding region. Seventy-eight P 1  and P 2  samples were investigated with PCR using allele-specific primers (ASP) for two polymorphisms previously proposed as P 2 -related genetic markers (-551_-550insC, -160A>G). Haplotype analysis of single nucleotide polymorphisms was also performed with PCR-ASP. In ~1.5 kbp of the 3'-untranslated region one new insertion and four new substitutions compared to a GenBank sequence (AL049757) were found. In addition to the polymorphisms at positions -550 and -160, one insertion, two deletions and one substitution were found in ~1.0 kbp of the 5'-upstream region. All 20 P 2  samples investigated with PCR-ASP were homozygous for -550insC. However, so were 18 of the 58 P 1  samples investigated. Both the 20 P 2  and the 18 P 1  samples were also homozygous for -160G.    Conclusion  The proposed P 2 -specific polymorphisms, -551_-550insC and -160G, found in P 2  samples in a Japanese study were found here in homozygous form in both P 1  and P 2  donors. Since  P   2   is the null allele in the P blood group system it is difficult to envision how these mutations would cause the P 2  phenotype. None of the novel polymorphisms reported in this study correlated with P 1 /P 2  status and the P1/p mystery remains unsolved.

bmc genomic data

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (P k ) locus do not correlate with the presence of the P1 blood group antigen