CisAB血型的血清学鉴定及分子遗传学研究——附1例报告

Serology characteristics and molecular genetic analysis of CisAB blood group

目的通过分子生物学方法鉴定1例罕见的CisAB血型,并调查其家系,以期探讨稀有血型CisAB的血清学特点,遗传学特性和输血策略。方法采用血型血清学方法筛查该家系3代共6例标本的血型,运用聚合酶链式反应序列特异性引物(PCR-SSP)法进行基因定型,采用ABO基因直接测序的方法作DNA序列的分析。结果血型血清学检测发现6名家系成员中,正反定型不相符3例:先证者表型为A_2B_x,其母亲为A_2B,其胎血为AB型;基因型分型结果分别为CisAB01/O01,CisAB01/B101,CisAB01/O01。DNA序列分析:CisAB01/O01第6外显子261缺失G,第7外显子467C>T、803G>C;CisAB01/B101第6外显子297A>G,第7外显子467C>T、796C>A、803G>C。结论对ABO血型血清学正反定型不符的标本,可以用家系调查和分子生物学方法进行辅助验证,基因测序更能准确确定患者的血型。

Objective To investigate the characteristics of CisAB and analyze the relationship between their phenotype and genotype and then reach a reasonable transfusion strategy. Methods Blood samples from the family were determined by the method of serology, the preliminary ABO genotype was evaluated with polymerase chain reaction-sequence specific primers ( PCR-SSP) technology and ABO gene sequencing.Results Among the six samples included in this study,three samples showed mismatched in forward and reverse blood grouping results,the propositus were serologically typed as having the A2BX phenotype,her mother and her bleeding of the umbilicus were typed as having the A2B and AB phenotype respectively,and their corresponding genotypes contained cisAB01 /O01,CisAB01 /B101 and cisAB01 /O01. Further sequencing analysis of the three samples with the CisAB blood type revealed that a G( 261) deletion occurred in exons 6,467C>T and 803G>C substitutions in exons 7 of CisAB01 /O01,while a 297A>G substitution occurred in exon 6 and 467C>T,796C>A and 803G>C substitutions occurred in exon 7 of CisAB01 /B101. Conclusion Genotyping is a more precise method to identify blood subgroups than a routine serological method when dealing with the forward and reverse mismatched blood grouping.