Human platelet antigen allele frequencies and new mutations on platelet glycoprotein genes in the Chinese Han population.

摘要

BACKGROUND AND OBJECTIVES: The frequencies of human platelet antigens (HPAs) vary between different populations. In this study, we determined the HPA allele frequencies in the Chinese Han population and identified situation of incompatibility possibly leading to alloimmunisation. METHODS: A total of 750 volunteer blood donors of the Chinese Han population were genotyped for HPA-1 to -17w systems. HPA genotyping was determined by polymerase chain reaction sequence-based typing. RESULTS: Among the 17 HPA systems, the allele frequency is different from other populations. We noted the absence of HPA-7bw to HPA-14bw, HPA-16bw and HPA-17bw alleles in the population. The estimated incompatibility probabilities regarding platelet antigens 1 to 6w and 15 systems after transfusion of random donor platelet were from 0.004 to 0.373. Thirteen glycoprotein alleles were observed in the population. In addition, we identified 16 novel mutations on the glycoprotein genes separated from HPA polymorphisms, including GP1BA (517-525delAAC), ITGA2B (2722C>T and IVS26+85T>C), ITGA2 (1521C>T, 2474T>G and IVS20+10 G>C), ITGB3 (1476G>A, IVS10+19C>A, 1813G>A, IVS11+21G>A, IVS11+152A>G and IVS11-104T>C), GP1BB (IVS1-79G>A, IVS1-27C>T and 129G>A) and CD109 (2139A>G). Five of them could lead to amino acid deletion, substitution or premature stop codon in corresponding glycoprotein. CONCLUSIONS: There was a high degree of polymorphism of the membrane glycoprotein genes related to human platelet alloantigen-1 to -17w systems in the Chinese Han population. These data could have some impact on the diagnosis, prevention and treatment of alloimmune thrombocytopenia.