山东省医药卫生科技发展计划(202011000535)
目的 对 3 例血清学定性为 A weak B 亚型的血标本进行 ABO 基因检测,探讨其分子遗传学特点,并探讨 B( A) 亚型与 CisAB、A 亚 B 型的鉴别要点。 方法 用 PCR?SSP 对常规血清学方法定型困难的 3 例标本进行 ABO 基因分型,并对其 ABO 基 因第 6、7 外显子扩增后进行直接测序及单倍型测序,确定其基因型。 结果 3 例标本血型血清学结果均为 Aweak B 型,存在不 规则抗 A 抗体。 基因分型均为 B(A)04 型,其 B 等位基因在第 7 外显子存在 nt640A>G 突变,标本 1 为 B(A)04 / O02,标本 2、3 为 B(A)04 / O01。 结论 当血清学检测结果正反定型不一致时,应采用分子诊断技术进行辅助诊断,并采用配血相合输血策 略,可确保临床输血安全。
Objective To detect AweakB subtype of ABO gene in three blood sample, discuss the molecular genetic basis and briefly ex? plore the key points of identification for CisAB with B(A) subtype. Methods PCR?SSP was employed for ABO genotyping of 3 blood samples with difficult identification by routine serological methods. The genotypes of the 3 samples were determined by direct and haplo? type sequencing for the products of amplification of the complete regions of exons 6 and 7 in ABO blood group gene,and their alleles were also identified. Results The results of the serologic group of the three samples were all AweakB type with irregular anti?A antibod? ies. The genotype was all B(A)04. The sample 1 was B(A)04 / O02 and both sample 2 and 3 were B(A)04 / O01. The B alleles were present nt640A>G mutation in exon 7 and was confirmed as B(A)04 allele. Conclusion When the positive and negative results of se? rological tests are inconsistent, molecular diagnostic techniques should be used for auxiliary diagnosis, and matching compatibility for blood transfusion strategy should be adopted, to ensure the the safety in clinical transfusion.
刘鹏,王伟涛,石磊,李燕,孙伟杰,初慧.B( A) 04 亚型血清学与分子生物学鉴定及与其他 AB 亚型的鉴别要点[J].临床检验杂志,2021,39(10):776-779