Serological characteristics and molecular mechanism of an individual with p phenotype / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze the serological characteristics and molecular mechanism for an individual with p phenotype.@*METHODS@#An individual with p phenotype upon blood group identification at Jiaxing Blood Center in May 2021 was analyzed. ABO, RhD and P1PK blood groups and irregular antibodies in her serum were identified using conventional serological methods. The encoding region of α1, 4-galactosyltransferase gene (A4GALT) encoding P1 and Pk antigens was analyzed by polymerase chain reaction-sequence-based typing (PCR-SBT).@*RESULTS@#The individual was A group, RhD positive and had a p phenotype of the P1PK blood group system. Anti-PP1Pk was discovered in her serum. Sequencing analysis revealed that she has harbored a homozygous c.343A>T variant of the A4GALT gene.@*CONCLUSION@#The homozygous c.343A>T variant of the A4GALT gene probably underlay the p phenotype in this individual.