罕见p表型的分子生物学新特征及其多态性探讨  

Exploring the novel molecular biological characteristics and polymorphism of rare p phenotypes

作　　者：曹国平[1] 张云宁[1] 高宏军 Cao Guoping;Zhang Yunning;Gao Hongjun(Department of Blood Transfusion of Taixing People′s Hospital,Taixing 225400,China;The Joint Reference Laboratory(Jiangyin)for Blood Group Genetic Test of National Health Commission of China,Jiangyin 214437,China)

机构地区：[1]江苏省泰兴市人民医院输血科,泰兴225400 [2]卫健委血型基因检测联合参比(江阴)实验室,江阴214437

出　　处：《中华检验医学杂志》2024年第9期1090-1093,共4页Chinese Journal of Laboratory Medicine

摘　　要：病例为A型、Rh(D)阳性的48岁男性献血者,在临床交叉配血过程中发现其作为供血者与多位ABO同型患者主侧配血结果均为阴性、次侧其血浆凝集所有人红细胞并严重溶血(4+H),而作为受血者则结果相反。进一步以盐水试管法及抗人球蛋白微柱凝胶法对样本血浆分别进行不规则抗体筛检和单特异性抗体鉴定,结果血浆与筛检细胞1~3及谱细胞1~10呈全阳性反应(4+H),但与人源p红细胞无反应。血浆中存在抗-P1P^(k)P抗体(IgG+IgM),效价1∶64。以单克隆抗-P1抗体检测红细胞P1抗原为阴性,表型为p。以Sanger法进行PA(α1,4-半乳糖基转移酶,A4GALT)和PB(β1,3-半乳糖基转移酶,B3GALNT)外显子测序,发现其P1PkP血型基因型为A4GALT^(*)241-243TTCdel/A4GALT^(*)241-243TTCdel,B3GALNT未出现突变。基因A4GALT241-243位点碱基TTC纯合子缺失突变是一种新的分子生物学特征,美国国家生物技术信息中心GenBank授予序列号OR900206。对相关文献报道进行回顾性分析发现p表型的基因突变呈现复杂多态性。在临床输血实践中,因其血浆中存在高效价能溶解所有非p型者红细胞并发生急性溶血性输血反应的抗-P1P^(k)P抗体(IgG+IgM),故不能输给p型之外任何人;红细胞经充分洗涤后可输给ABO且Rh(D)同型(或AB型)的任何人,如作为受者只能接受ABO同型或O型的p型红细胞。The case was a 48-year-old male blood donor with type A and Rh(D)positive.During clinical cross matching,it was found that,as a donor,the forward cross-match with several ABO-compatible patients yielded negative results.However,on the reverse side,his plasma agglutinated all recipients′red blood cells and caused severe hemolysis(4+H).As a recipient,the results were opposite.Further,irregular antibody screening and monospecific antibody identification were carried out for the sample plasma using the saline tube method and the anti-human globulin microcolumn gel method.The results showed that the plasma reacted positively(4+H)with screening cells 1 to 3 and panel cells 1 to 10,but had no reaction with human-derived p red blood cells.There were anti-P1P^(k)P antibodies(IgG+IgM)in plasma with a titer of 1∶64.The detection result of red blood cell P1 antigen against monoclonal anti-P1 antibody was negative,indicating a p phenotype.Using the Sanger method for sequencing the exons of PA(α1,4-galactosyltransferase,A4GALT)and PB(β1,3-galactosyltransferase,B3GALNT),it was found that the P1PkP blood group genotype was A4GALT^(*)241-243TTCdel/A4GALT^(*)241-243TTCdel,and B3GALNT did not show any mutation.The homozygous deletion mutation of TTC at position 241-243 in the A4GALT gene is a novel molecular biological feature,and the sequence accession number OR900206 was assigned by the National Center for Biotechnology Information GenBank.A retrospective analysis of relevant literature reports revealed that gene mutations in the p phenotype exhibited complex polymorphisms.In clinical transfusion practice,the presence of highly effective anti-P1P^(k)P antibodies(IgG+IgM)in his plasma that can destroy all non-p type red blood cells and cause acute hemolytic transfusion reactions,indicates that this donor′s blood cannot be administered to any non-p phenotype individuals.After thorough washing,red blood cells can be transfused to any ABO and Rh(D)compatible(or AB type)recipients.As a recipient,only p phenotype red blood cell

关 键 词：序列分析 外显子 p表型 抗-P1P^(k)P抗体 

分 类 号：R457.1[医药卫生—治疗学] R446.6[医药卫生—临床医学]