Serological characteristics and molecular mechanism of an individual with p phenotype
屠佳燕 1周建华 2吴瑾惠 1洪小珍 3许先国 3倪修文 1梁程红 李岭
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作者信息
1. 1嘉兴市中心血站检验科，嘉兴 314033
2. 2湖州市中心血站质管科，湖州 313099
3. 3浙江省血液中心输血研究所（浙江省血液安全研究重点实验室），杭州 310052
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摘要
目的 分析1例p表型个体的血清学特征和分子机制。 方法 选取2021年5月在嘉兴市中心血站进行血型鉴定的1例p表型个体为研究对象。用血型血清学方法鉴定其ABO、RhD、P1PK血型和意外抗体。采用PCR-直接测序法(PCR-SBT)对编码P1和PK抗原的α1，4-半乳糖基转移酶基因(A4GALT)的编码区进行测序分析。 结果 该个体的血型为A型、RhD阳性、P1PK系统为罕见的p表型，血清中存在抗-PP1Pk。测序结果显示其A4GALT基因编码区存在c.343A>T纯合变异。 结论 A4GALT基因c.343A>T纯合变异很可能导致了p表型个体。 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 theA4GALT gene. Conclusion The homozygous c. 343A>T variant of theA4GALT gene probably underlay the p phenotype in this individual.
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 theA4GALT gene. Conclusion The homozygous c. 343A>T variant of theA4GALT gene probably underlay the p phenotype in this individual.
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