1. Naturally occurring anti‐PP1PK in a Chinese individual with p phenotype: A case based on compound heterozygosity including one novel allele.
- Author
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Liang, Shuang, Wu, Fan, Deng, Zhi‐Hui, Liang, Yan‐Lian, Peng, Long, and Su, Yu‐Qing
- Abstract
Background: The null phenotype in P1PK blood group, known as "p," is extremely rare in the whole world. Individuals of p phenotype spontaneously form anti‐PP1PK isoantibody. Here, we report a case of p phenotype with naturally occurring anti‐PP1PK isoantibodies in a Chinese individual. Study Design and Methods: Serology tests, containing alloantibodies screening and identification, were conducted to demonstrate the phenotype in P1PK blood group. The genotype of A4GALT gene was identified by haplotypes separation and sequencing. Results: The serological assay demonstrated the p phenotype of the proband, presenting with 1:64 titer of anti‐PP1PK. The sequencing data revealed a compound heterozygote consisting of A4GALT*P1.01 with c.343A>T and a novel allele based on A4GALT*01N.05 with an addition polymorphism c.100G>A. The sequence of the novel allele has been submitted to GenBank and the accession number OM912503 was assigned. Conclusion: Our study demonstrates a case of naturally occurring anti‐PP1Pk in a Chinese individual with p phenotype, which is based on compound heterozygosity including one novel allele. As the proband is a young lady, monitoring the titer of anti‐PP1PK and early initiation of medical intervention are essential after her pregnancy. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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