血型嵌合体一例血清学特点及基因学测序分析

Serological characteristics and gene sequencing analysis of one case of blood group chimera

目的:对一例疑似血型嵌合体进行血清学及基因学鉴定。方法:采用血清学标准方法鉴定ABO血型;PCR扩增ABO基因7个外显子及其侧翼序列,通过测序分析进行基因学定型;采用凝聚胺介质和Liss-coombs卡进行交叉配血试验。结果:血清学正定型表现为抗A凝集(强度为4+),抗B呈混合凝集(±)且抗B管底部有大量红细胞。反定型显示A、B、O型细胞均不凝集。家系调查显示其父为B型,母为A型,子为O型,正反定型均一致。测序结果显示ABO基因第6、7外显子存在3个等位基因A102、B101和O02,其中O02和B101来自于其父,A102来自于其母。配血试验表明AB型悬浮红细胞配血主、次侧均无溶血、无凝集;A、B、O型悬浮红细胞配血主侧无溶血、无凝集,次侧无溶血、有凝集。结论:患者是嵌合体血型。

Aim:To identify a suspected blood group chimera by serology and genomics.Methods:ABO blood group was identified by serological standard method.Seven exons of ABO gene and their flanking sequences were amplified by PCR and genotyped by sequencing analysis.Cross matching test was carried out by polyamine medium and Liss-coombs card.Results:Positive serotyping result showed that anti-A agglutination intensity was 4 +,anti-B was mixed agglutination(±) and a large number of red blood cells were at the anti-B tube bottom.Reverse serotyping showed that type A,B and O cells did not agglutinate.Family survey showed that the father was B type,the mother was A type,and the son was O type.Both positive and reverse stereotypes were identical.Sequencing results showed that there were three alleles(A102,B101 and O02) in exons 6 and 7 of ABO gene,O02 and B101 came from the father and A102 from the mother.The blood matching test showed that there was no hemolysis or agglutination in the main and secondary sides of type AB suspended red blood cell matching,and no hemolysis or agglutination in the main side of type A,B and O suspended red blood cell matching,and no hemolysis or agglutination in the second test.Conclusion:The patient is chimeric blood group.