罕见p血型案例的血清学和分子生物学分析

Serological and Molecular Biological Analysis of Rare Cases of p-Blood Type

目的:通过患者血型血清学试验和分子生物学结果,明确患者血型及血型抗体特异性,为患者寻找配合型血液。方法:采用血型血清学方法进行红细胞ABO、RhD、p血型鉴定;采用盐水法、微柱凝胶法、IAT法进行不规则抗体筛查和抗体特异性鉴定。采用正反向Sanger测序特异扩增A4GALT基因第3外显子(CDS序列),明确基因突变位点和基因型。结果:患者血清学血型为B型D阳性,推测p表型,同时血清中检出抗-Tj^(a),进一步A4GALT基因外显子测序,第559号碱基发生了G>C的纯合突变基因型ISBT命名A4GALT*01N.10,分子生物学验证明确为p血型;血清学方法证实患者血清中含有抗-Tj^(a)。结论:血清学与分子生物学方法共同鉴别出1例稀有血型p血型,对于临床安全输血具有重要意义。

Objective:To clarify the specificity of patient blood type and blood type antibody through patient blood type serological tests and molecular biology results,and to search for matching blood for patients.Methods:Blood type serological methods were used for the identification of red blood cell ABO,RhD,and p blood type.Salt water method,microcolumn gel method and IAT method were used for irregular antibody screening and antibody specificity identification.Forward and reverse sanger sequencing was used to amplify specifically the third exon(CDS sequence)of the A4GALT gene,identify the mutation site and genotype of the gene.Results:The patient s serological blood type was positive for type B and D,indicating a p phenotype.At the same time,anti-Tj^(a) was detected in the serum,and further sequencing of the A4GALT gene exon was performed,the homozygous mutation with G>C occurred at base 559,and.the genotype ISBT was named A4GALT*0IN.10.Molecular biology verification confirmed it to be p blood group.Serological methods confirm that the patient's serum contains anti-Tj^(a).Conclusion:The joint identification of the rare blood type-p blood type by serological and molecular biological methods is of great significance for safe clinical blood transfusion.