CisAB与B(A)血型的鉴定分析——附报告5例

Identification on five cases of rare Cis-AB and B( A) blood group in Chinese individuals

目的了解吉林地区人群中Cis AB和B(A)血型的特点及其表型与基因型的关联性。方法采用微孔板法对本血液中心无偿献血者共71 200名进行ABO血型筛查鉴定,对凝集强度减弱和正反定型结果不一致样本采用试管法进行血型血清学分析和亚型鉴定,对血清学检测为ABO亚型的样本再采用PCR-SBT方法对6、7外显子和部分内含子进行基因序列分析。结果经ABO基因测序确定Cis AB 3例、B(A)2例,等位基因有Cis AB01、Cis AB05、B(A)02、B(A)04,其中发现1例B(A)04/B(A)04纯合基因型,它们对应的血清学表型有A2B、A2Bx和Ax B。结论Cis AB和B(A)血型通过血清学表型通常难以区分,经基因测序可以明确血清学特征形成的分子基础。

Objective To investigate the characteristics of Cis AB and B（ A） and analyze the relationship between their phenotype and genotype in Jilin province. Methods ABO blood types of 71 200 samples from volunteer blood donors in our blood center were serotyped with MPP（ microwell plate） method. The weakly agglutination and discordant experimental results were analyzed by further serological studies and subtype clarification using tube methods. ABO gene sequences were screened on complete exon 6 and 7（ including introns） by PCR and direct sequencing in serological ABO subtype samples.Results 3 cases of Cis AB and 2 cases of B（ A） were determined and their alleles involved Cis AB01,Cis AB05,B（ A） 02 and B（ A） 04. B（ A） 04 / B（ A） 04 homozygous genotype was found in a sample. Their corresponding serological types contained A2 B,A2Bx and Ax B. Conclusion It is difficult to distinguish the serological types of Cis AB and B（ A）,but the molecular basis of serological phenotype will be clarified with PCR-SBT.