Names for GLOB (ISBT 028) Blood Group Alleles

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Names for GLOB blood group alleles v2.0 110914 Names for GLOB (ISBT 028) Blood Group Alleles General description: The GLOB system was acknowledged in 2002 when the P or globoside antigen was moved from the 209 collection. The P antigen is the most common neutral glycosphingolipid in the red cell membrane, belongs to the globoseries and has the following structure: GalNAc3Gal4Gal4Glc1 ceramide, also known as globoside (Gb4Cer). The B3GALT3 gene was first reported in 1998 by Amado et al. to be a member of the 1,3-galactosyltransferase gene family and its product given the name 3Gal-T3. It was later shown by Okajima et al. to possess UDP-N-acetyl galactosamine:globotriaosylceramide 3--N-acetylgalactosaminyl- transferase or globoside synthase activity and the gene name changed to B3GALNT1 and its product renamed 3GalNAc-T1. This enzyme is responsible for the final step in the synthesis of the P antigen, the transfer of GalNAc to the terminal Gal of the Pk antigen. The final proof of this was the identification by Hellberg et al. of critical mutations in the B3GALNT1 gene as the genetic k k basis of P1 and P2 , the rare globoside-deficient null phenotypes of the GLOB system. Gene name: GLOB (B3GALNT1) Number of exons: 5 Initiation codon: Exon 5 Stop codon: Exon 5 GenBank #: AB050855 Entrez Gene ID: 26879 Reference allele: Accession number AB050855 Preferred: GLOB*01 (B3GALNT1*01) Acceptable: P if inferred by haemagglutination Amino acid RBC Phenotype Allele name Nucleotide change Exon change GLOB:1 (P+) GLOB*01 Null phenotypes† GLOB:–1 (P–) GLOB*01N.01 202C>T 5 67Stop GLOB:–1 (P–) GLOB*01N.02 292_293insA 5 97fs102Stop GLOB:–1 (P–) GLOB*01N.03 433C>T 5 Arg145Stop GLOB:–1 (P–) GLOB*01N.04 537_538insA 5 180fs182Stop GLOB:–1 (P–) GLOB*01N.05 648A>C 5 Arg216Ser GLOB:–1 (P–) GLOB*01N.06 797A>C 5 Glu266Ala GLOB:–1 (P–) GLOB*01N.07 811G>A 5 Gly271Arg Page 1 of 2 Names for GLOB blood group alleles v2.0 110914 GLOB:–1 (P–) GLOB*01N.08 959G>A 5 Trp320Stop † k k The null phenotype caused by these alleles can either be P1+ or P1–, i.e. P1 or P2 Page 2 of 2 .

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