Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals.

Abstract excerpt

p phenotype individuals lack both P(k) (Gb3) and P (Gb4) glycolipid antigens of the P blood group system. To explore the molecular basis for this phenotype, DNA sequences of Gb3 synthase (alpha1, 4-galactosyltransferase; alpha1,4Gal-T) in six p phenotype individuals from Japan and Sweden were analyzed. A missense mutation P251L and a nonsense mutation W261stop in three and one Japanese indivuiduals, respectively,...

Topics

• Amino Acid Sequence
• Base Sequence
• DNA Primers
• Galactosyltransferases
• Genetics, Population
• Humans
• Japan
• Molecular Sequence Data
• Mutation, Missense
• P Blood-Group System