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Additional molecular bases of the clinically important p blood group phenotype
Author(s) -
Hellberg Åsa,
Steffensen Rudi,
Yahalom Vered,
Sojka Birgitta Nilsson,
Heier Hans Erik,
Levene Cyril,
Poole Joyce,
Olsson Martin L.
Publication year - 2003
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.2003.00425.x
Subject(s) - genetics , allele , biology , gene , phenotype , mutation , stop codon , microbiology and biotechnology
BACKGROUND: The purpose of this study was to explore the molecular basis of the p phenotype by analysis of the recently cloned 4‐α‐galactosyltransferase gene responsible for synthesis of P k (Gb 3 ) antigen. STUDY DESIGN AND METHODS: Forty samples from individuals of eight different nationalities were investigated by serologic methods and DNA sequencing of the P k gene. RESULTS: Ten different P k ‐null alleles, of which 6 are novel, were encountered. The 29 Swedes were homozygous for M183K or G187D, with the former as the predominant allele. Three Israelis were homozygous for a single‐nucleotide deletion at codon 219 that shifts and truncates the reading frame by 5 amino acids. Two Italians were homozygous for a triplet deletion causing F81del, while an English donor was heterozygous for F81del but also carried another allele with a combined deletion and insertion. A Pole was heterozygous for alleles with either a single‐base deletion at codon 257 or a mutation causing S97L. A Norwegian person and a Japanese person were homozygous for single‐base insertions causing a premature stop at codon 282 or extension of the protein by 92 residues, respectively. In 2 samples no mutations were detected. CONCLUSION: The genetic heterogeneity underlying the p phenotype is further emphasized by this study. To date, 11 p‐specific mutations have been found in 14 distinct alleles.