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Background

The rare but clinically important null phenotypes of the P1PK and GLOB blood group systems are due to alterations in A4GALT and B3GALNT1, respectively. A recently identified single-nucleotide polymorphism in Exon 2a of A4GALT predicts the common P1 and P2 phenotypes but rare variants have not been tested.

Study design and methods

The aim of this study was to analyze 84 p, P1 (k) , and P2 (k) samples, with special emphasis on unknown alleles and the P(1) /P(2) marker. Of these, 27 samples came from individuals not previously investigated genetically and were therefore subjected to sequencing of A4GALT or B3GALNT1, and a subset was tested by flow cytometry.

Results

The P(1) /P(2) genotyping linked 20 p-inducing mutations in A4GALT to P(1) or P(2) allelic background. Eight p alleles remain unlinked due to compound heterozygosity. For 23 of 25 P(k) samples, concordant results were observed: P1 (k) samples had at least one P(1) allele while P2 (k) had P(2) only. The two remaining samples typed as P1+ and P1+(w) but were genetically P(2) /P(2) . A tendency toward higher P(k) antigen expression was observed on P1 (k) cells compared to P2 (k) . In total, six previously unknown null mutations were found and characterized in A4GALT while four new changes were revealed in B3GALNT1.

Conclusion

For the first time, p alleles were shown to occur on both P(1) and P(2) allelic backgrounds. Furthermore, P(1) /P(2) genotyping predicted the P1 (k) versus P2 (k) phenotype in more than 90% of globoside-deficient samples. The number of GLOB-null alleles was increased by 50% and several P1PK-null alleles were identified."xsd:string
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http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Olsson M.L."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Peyrard T."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Hellberg A."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Hustinx H."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Thuresson B."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/author"Westman J.S."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/date"2013"xsd:gYear
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http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/pages"2928-2939"xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/title"P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems."xsd:string
http://purl.uniprot.org/citations/23927681http://purl.uniprot.org/core/volume"53"xsd:string
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